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The genome composition of intermediate wheatgrass (IWG; Thinopyrum intermedium (Host) Barkworth and D.R. Dewey; 2n = 6x = 42) is complex and remains to be a subject of ongoing investigation. This study employed fluorescence in situ hybridization (FISH) to analyze the karyotype of Th. intermedium and its related species. With the St2-80 probe derived from Pseudoroegneria strigosa and the pDb12H probe from Dasypyrum breviaristatum, FISH analysis classified the chromosomes of Th. intermedium as JvsJvsJrJrStSt. FISH karyotype was established using pSc119.2-1, (GAA)10, AFA-3, AFA-4, pAs1-1, pAs1-3, pAs1-4, and pAs1-6 as a combined multiplex oligonucleotide probe. MATO software was used to analyze chromosome length, arm ratio, and karyotype structure. The karyotype formula of Th. intermedium is K(2n) = 6X = 42 = 36m + 6sm, and that of Th. junceiforme is K(2n) = 4X = 28 = 22m + 6sm. The karyotype formula of Th. elongatum and Th. bessarabicum is K(2n) = 2X = 14 = 12m + 2sm, of Ps. spicata is K(2n) = 2X = 14 = 2M + 12m, and of Da. villosum is K(2n) = 2X = 14 = 12m + 2sm. Based on the results of FISH, standard karyotypes of Th. intermedium and its potential progenitor species were constructed. These standard karyotypes revealed that there was evolutionary parallelism between genome and karyotype, but due to the complexity of evolution, the FISH signal of Th. intermedium was abundant and asymmetrical. [ABSTRACT FROM AUTHOR]

Background: Premature ovarian insufficiency (POI) is a clinical condition characterized by ovarian dysfunction in women under 40. The etiology of most POI cases remains unidentified and is believed to be multifactorial, including factors such as autoimmunity, metabolism, infection, and genetics. POI exhibits significant genetic heterogeneity, and it can result from chromosomal abnormalities and monogenic defects. Case presentation: The study participant, a 33-year-old woman, presented with a history of irregular menstruation that commenced two years ago, progressing to prolonged menstrual episodes and eventual cessation. The participant exhibits a rearrangement of the X chromosome, characterized by heterozygosity duplication on the long arm and heterozygosity deletion on the short arm by whole exome sequencing(WES) combined with cell chromosome detection. Conclusions: This study expands the spectrum of mutations associated with POI resulting from X chromosomal abnormalities. WES-Copy number variation analysis, in conjunction with chromosome karyotype analysis and other detection techniques, can provide a more comprehensive understanding of the genetic landscape underlying complex single or multi-system diseases. [ABSTRACT FROM AUTHOR]

Akebia trifoliata, as a new fruit, is becoming competitive and popular in the markets of eastern Asian countries, especially China, because of its nutritional value and health-promoting functions. To ultimately develop seedless varieties, germinating seeds of the A. trifoliata monoembryonic line ‘710’ with ~1.5-cm-long roots were treated with five different concentrations of colchicine (0.1%, 0.2%, 0.3%, 0.4%, and 0.5%) for four soaking periods (12, 24, 36, and 48 hours). Ploidy level assessments via both flow cytometry and karyotype analysis revealed some autotetraploids and chimeras in surviving seedlings treated with both 0.4% and 0.5% colchicine for 48 h, but the highest autotetraploid (33.3%) and chimera (19.0%) rates were observed in surviving seedlings treated with 0.3% colchicine for a 12-hour soaking period; no autotetraploids or chimeras were detected in plants treated with only water. In addition, we also found that autotetraploid plants usually presented broader and thicker leaves with larger stomas and epidermic cortical cells. Notably, no autotetraploid of A. trifoliata has been reported previously; therefore, both autotetraploids and chimeras are valuable breeding parents for autotriploid seedless varieties and ideal materials for further theoretical studies. [ABSTRACT FROM AUTHOR]

In this study, a natural tetraploid loach (4n = 100) was crossed with a diploid loach (2n = 50) thus creating the different offspring hybrid combinations 4n♀×2n♂、2n♀×4n♂. Chromosome samples of hybrid triploid loach fin cell passed for 20 times were prepared via conventional cold drop method. The chromosome number and karyotype were determined via Giemsa staining; Banding analysis were conducted via Ag-NORs and CMA3/DA/DAPI staining. The results showed that the metaphase chromosome number of the fin cells of the hybrid triploid loach was 3n = 75,and the karyotype formula was 15m+6sm+54t, NF = 96;three silver staining signal points were observed in the chromosome metaphase of hybrid triploid loach fin cells, located at the end region of the first pair of central centromeric chromosomes (M1); there were three CMA3 signal points in the chromosome metaphase of hybrid triploid loach fin cells, which were located at the region of chromosomes (M1).The study showed that the chromosome composition of hybrid triploid loach fin cells remained unchanged after 20 times of cell culture passage, and the chromosome number, karyotype and band type were consistent with other somatic chromosomes of triploid loach. The results laid the foundation for the cytogenetics of hybrid triploid loach and provided a theoretical basis for cytogenetics of triploid loaches. [ABSTRACT FROM AUTHOR]

Purpose: This is a retrospective comparative study. We aimed to analyze the results of karyotype and chromosomal microarray analysis (CMA) of amniotic fluid across different gestational weeks and evaluate the clinical value in prenatal diagnosis, particularly in the late pregnancies. Methods: Samples from 580 pregnant women of 18–23 weeks of gestation (mid-gestation group) and 196 pregnant women of 24–32 weeks of gestation (late group) were performed both standard G-band karyotype analysis and CMA. Results: Among the 580 pregnant women in the routine group, the most common indications were positive Down's screening (213/580, 36.7%), followed by advanced maternal age (196/580, 33.8%); while fetal structural anomalies on ultrasonography were the top reason for amniocentesis in the late group (56/196, 28.6%). In the routine group, the total detection rate was 12.1% (70/580), of which 4.1% (24/580) were identified by karyotype analysis and 11.2% (65/580) by CMA. The total detection rate was 15.3% (30/196) in the late group, of which 5.1% (10/196) were detected by karyotype analysis, and 14.3% (28/196) by CMA. Conclusion: Karyotype analysis and CMA are complementary in detecting chromosomal abnormalities. Amniotic cavity puncture in the karyotype analysis in 18–23 weeks of gestation and 24–32 weeks of gestation is safe and effective, more obvious effect on the latter. [ABSTRACT FROM AUTHOR]

Fetal chromosomal abnormalities are the main cause of adverse pregnancy outcomes and are the focus of invasive prenatal diagnosis. Recent studies have demonstrated that various techniques have distinct advantages. Achieving high-resolution and effective prenatal chromosomal abnormality diagnosis requires a multi-technology integration strategy. Based on retrospective samples from a single center, we propose that integrating CNVseq and karyotype analysis is an effective strategy for prenatal diagnosis of chromosomal abnormalities. In this study, 13.80% of the pregnant women (347/2514) were found to have likely pathogenic or pathogenic fetal chromosomal abnormalities using this integrated approach. Among these cases, 53.89% (187/347) had consistent chromosomal abnormalities detected by both CNV-seq and karyotyping analysis, while 19.02% (66/347) and 27.09% (94/347) of cases were diagnosed solely by CNV-seq or karyotyping, respectively. Fetal chromosomal abnormalities were identified in 18.39% of samples with abnormal ultrasound, which was significantly higher than the percentage found in samples with normal ultrasound (p < 0.001). Samples with multiple ultrasound abnormalities and single-indicator ultrasound abnormalities such as nasal bone dysplasia, renal dysplasia, or echogenic fetal bowel also had higher rates of chromosomal abnormalities (p < 0.05) compared to normal samples. Analyzing samples with Trio family data (N = 521) revealed that about 94% of variants of uncertain significance were inherited from parents and were nonpathogenic. Overall, integrating CNV-seq and karyotype analysis is an effective strategy for prenatal diagnosis of chromosomal abnormalities. This study provides valuable insights for correlating prenatal screening indicators with chromosomal abnormalities. [ABSTRACT FROM AUTHOR]

Background: Both copy number variant-sequencing (CNV-seq) and karyotype analysis have been used as powerful tools in the genetic aetiology of fetuses with congenital heart diseases (CHD). However, CNV-seq brings clinicians more confusions to interpret the detection results related to CHD with or without extracardiac abnormalities. Hence, we conducted this study to investigate the clinical value of CNV-seq in fetuses with CHD. Results: A total of 167 patients with fetal CHD including 36 single CHD (sCHD), 41 compound CHD (cCHD) and 90 non-isolated CHD (niCHD) were recruited into the study. 28 cases (16.77%, 28/167) were revealed with chromosomal abnormalities at the level of karyotype. The pathogenic detection rate (DR) of CNV-seq (23.17%, 19/82) was higher than that of karyotyping (15.85%, 13/82) in 82 cases by CNV-seq and karyotyping simultaneously. The DR of pathogenic copy number variations (PCNVs) (31.43%) was higher in niCHD subgroup than that in sCHD and cCHD (9.52% and 23.08%). Conotruncal defect (CTD) was one of the most common heart malformations with the highest DR of PCNVs (50%) in 7 categories of CHD. In terms of all the pregnancy outcomes, 67 (40.12%) cases were terminated and 100 (59.88%) cases were live neonates. Only two among 34 cases with a pathogenic genetic result chose to continue the pregnancy. Conclusions: CNV-seq combined with karyotyping is a reliable and accurate prenatal technique for identifying pathogenic chromosomal abnormalities associated with fetal CHD with or without extracardiac abnormalities, which can assist clinicians to perform detailed genetic counselling with regard to the etiology and related outcomes of CHD. [ABSTRACT FROM AUTHOR]

Background: Karyotype analysis and fluorescence in situ hybridization (FISH) are commonly used for prenatal diagnosis, however they have many disadvantages. Chromosome microarray analysis (CMA) has the potential to overcome these disadvantages. This study aimed to evaluate the clinical value of CMA in the diagnosis of fetal chromosomal anomalies in southwest of China. Methods: A total of 3336 samples of amniotic fluid or umbilical cord blood from pregnant women with high-risk indicators at our center in southwest of China from June 2018 to January 2023 were included in the retrospective analysis. 3222 cases tested by CMA and karyotyping, 114 cases only tested by CMA. Results: 3336 samples divided into 2911 cases with single and 425 cases with multiple high-risk indicators. The aneuploidy and pathogenic/likely pathogenic copy number variations (CNVs) of 2911 cases with single high-risk indicator were 4.43% (129/2911) and 2.44% (71/2911) respectively; the aneuploidy and pathogenic/likely pathogenic CNVs of 425 cases with multiple high-risk indicators were 6.82% (29/425) and 2.12% (9/425) respectively. The rate of aneuploidy increased significantly with pregnancy age or NT value. The detection rate of aneuploidy on cases with AMA combined NT ≥ 2.5 mm was significantly higher than that in cases only with AMA (p < 0.001); the detection rate of aneuploidy and pathogenic/likely pathogenic CNVs in cases with AMA combined NIPT high-risk were higher than that in cases only with AMA (p < 0.001, p < 0.05). Conclusions: The combined application of CMA and karyotyping were recommended in prenatal diagnosis for providing a scientific and accurate genetic diagnosis and improving the quality of prenatal genetic counseling. [ABSTRACT FROM AUTHOR]

Salvia is the largest genus of the Lamiaceae. Several species of Salvia are used as traditional Chinese medicine, as well as ornamental species. To explore the evolution pattern of species in Hengduan Mountains at the cytological level and to discuss the taxonomic relationship between morphological taxonomy and molecular systematics, based on extensive collection of chromosome literature, the karyotypes of six species(eight populations)of Salvia collected from Hengduan Mountains were analyzed by using conventional plant pressing method, and the chloroplast phylogenetic trees of Salvia distributed in China were constructed. The statistical results were as follows:(1)About 23% of the chromosome data of Salvia was reported all over the world, in which the chromosome reporting rate of Salvia in China was 32.10%. The reporting rate of Salvia in Hengduan Mountains was 40.54%.(2)The chromosome basic number of Salvia were mainly x=8 and x=11, and the chromosome cardinal numbers of Salvia plants distributed in China were x=8. The experimental results were as follows:(1)The karyotype data of S. wardii was reported for the first time.(2)The diploid population of S. evansiana was found for the first time in Deqen, Yunnan. The chromosome evolutionary association analysis was carried out by combining cytological data with chloroplast evolution tree, and it was demonstrated that polyploidy might not be the main mechanism of Salvia adapting to high altitude environment. It showed that polyploid was not the main evolutionary pathway of Salvia plants species formation, but mainly at the level of diploid. So we speculated that the doubling of genome might be one of the reasons for the inconsistency between species morphology taxology and molecular phylogeny taxology. This study enriches the chromosome karyotype data of Salvia in Hengduan Mountains, discusses the evolutionary relationship of chromosome characteristics combined with regional molecular phylogenetic tree, has made exploration for further study of the karyotype evolution of Salvia species in the future, and complements the basic data for the deduction and analysis of the chromosome cardinal number of ancestral species. [ABSTRACT FROM AUTHOR]

Natural hybrids in Triticeae have been frequently reported from the Qinghai–Tibet plateau, but minor variation in morphological features and homoploid hybridization have made it difficult to identify the origin and genome constitution of hybrids between Elymus and Campeiostachys. Specimens were investigated using morphology, cytogenetics and phylogenetic analyses to uncover the genome constitution and origin of ten putative natural hybrids (SH01-SH10) from the Qinghai–Tibet plateau. SH01, SH02, SH03, SH05 and SH06 (2 n  = 5 x  = 35, StStHHY) originated from Campeiostachys breviaristata (2 n  = 6 x  = 42, StStHHYY) and Elymus sibiricus (2n = 4x = 28, StStHH); SH04 and SH07 (2 n  = 5 x  = 35, StStHHY) originated from C. nutans (2 n  = 6 x  = 42, StStHHYY) and E. sibiricus ; SH08 (2 n  = 5 x  = 35, StStHHY) originated from C. dahurica var. tangutorum (2 n  = 6 x  = 42, StStHHYY) and E. sibiricus ; and SH09 and SH10 (2 n  = 4 x  = 28, StStHH) were the homoploid hybrids of E. sibiricus and an unknown Elymus sp. (2 n  = 4 x  = 28, StStHH). Karyotype variations in SH04 and SH07 might originate from the maternal progenitor. Frequent hybridization in the Qinghai–Tibet plateau might result from factors such as genome constitution, pollination habits, overlapping flowering stage, sympatric distribution and unique ecological conditions. [ABSTRACT FROM AUTHOR]

Ruppia mongolica Y. Zou & X.W. Xu, a new species from Inner Mongolia, China, is described and illustrated. The phylogenetic position of the new species within the genus was analyzed based on eight chloroplast DNA fragments and an ingroup sampling of all Eurasian species of Ruppia. The results showed that R. mongolica formed a separate branch between R. sinensis and the clade of R. maritima, R. brevipedunculata, R. drepanensis, and R. cirrhosa. Based on molecular and geographical evidence, our study reveals that R. mongolica is closely related to R. sinensis and R. brevipedunculata but differs from the former in the length and shape of the peduncle and seed size, and from the latter in the length of the peduncle, number of carpels per flower, and seed size. In addition, the karyotype analysis revealed that R. mongolica is octoploid, which is first reported within Ruppia, further supporting R. mongolica as a new species. [ABSTRACT FROM AUTHOR]

Copyright of Journal of Henan Agricultural Sciences is the property of Editorial Board of Journal of Henan Agricultural Sciences and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective: The purpose of this study is to discuss the results of products of conception (POC) karyotype analysis in cases with recurrent pregnancy loss (RPL). Material and Methods: The data of the cases evaluated with the diagnosis of RPL were retrospectively obtained and the results were examined (n=485). Among them, 135 cases with karyotype analysis were included in the study. Maternal age, gestational week, and karyotype analysis results were recorded (n=129). Cases between 6 and 14 weeks of age were included in the study. Maternal age, gestational week, and karyotype analysis results of cases with RPL between 6 and 14 weeks of gestation were recorded as data. Genetic analysis of POC was made with conventional cytogenetic techniques. Results: One hundred and thirty-five cases diagnosed with RPL were included in the study. Mean maternal age was 34.43±5.41 years and mean gestational age was 8.36±1.58 weeks. Abnormal karyotype was detected in 40 cases (40/129, 31%). Karyotype analysis was normal in 89 cases and among these, two fetuses had 46, XX, 9qh+ polymorphism. In cases with abnormal karyotype, maternal age was found to be more advanced compared to euploid karyotypes (35.97±5.31 vs 33.57±5.31, p=0.0188). Again, in male fetuses (17/35), when compared to females (23/83), significantly more abnormal karyotypes were detected (p=0.048). Conclusion: The frequency of abnormal karyotype in RPL cases was 31%, and the most common abnormality was autosomomal trisomies (62.5%). Trisomy 22 was the most common of the trisomies (24%). We also emphasize that the frequency of abnormal karyotype increases with advanced maternal age, according to our results. [ABSTRACT FROM AUTHOR]

Fritillaria (Liliaceae) are a genus of perennial bulbous plants with medicinal and ornamental importance. They are widely distributed in temperate regions of the northern hemisphere and are considered as novelty flowers on the ornamental market. In this study a genetic analysis of chromosome karyotypes of nine Fritillaria spp. in three subgenera was carried out using root tip squashes. Except for F. uva-vulpis, which is triploid (2n = 3x = 33), the other eight Fritillaria species are diploid (2n = 2x = 24). The karyotypes of F. pallidiflora, F. tortifolia and F. verticillata var. albiflora are 2B, while F. imperialis, F. uva-vulpis, F. verticillate, F. yunminensis, F. anhuiensis and F. karelinii are 3B. In addition, results of a clustering analysis using the karyotype near-resemblance coefficient conducted among the eight diploid species support the current classification of the Fritillaria L. subgenera. This study provides cytological evidence for phylogenetics and crossbreeding. [ABSTRACT FROM AUTHOR]

Copyright of Bulletin of Botanical Research is the property of Bulletin of Botanical Research Editorial Department and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Preimplantation genetic testing plays a critical role in enabling a balanced translocation carrier to obtain the normal embryo. Identifying the precise breakpoints for the carriers with phenotypic abnormity, allows us to reveal disrupted genes. In this study, a seemingly balanced translocation 46, XX, t (3; 6) (q29; q26) was first detected using conventional karyotype analysis. To locate the precise breakpoints, whole genomes of DNA were sequenced based on the nanopore GridION platform, and bioinformatic analyses were further confirmed by polymerase-chain-reaction (PCR) and copy number variation (CNV). Nanopore sequencing results were consistent with the karyotype analysis. Meanwhile, two breakpoints were successfully validated using polymerase-chain-reaction and Sanger Sequencing. LOC105378102 and LMLN genes were disrupted at the breakpoint junctions. Notably, observations found that seemingly balanced translocation was unbalanced due to a cryptic 269 kilobases (Kb) microduplication and a 25 bp deletion at the breakpoints of chromosome (chr) 6 and chr 3, respectively. Furthermore, 269 Kb microduplication was also confirmed by copy number variation analyses. In summary, nanopore sequencing was a rapid and direct method for identifying the precise breakpoints of a balanced translocation despite low coverage (3.8×). In addition, cryptic deletion and duplication were able to be detected at the single-nucleotide level. [ABSTRACT FROM AUTHOR]

Background: Using combined fluorescence in situ hybridization (FISH) and high-throughput whole-genome sequencing (WGS) molecular cytogenetic technology, we aim to analyze the junction breakpoints of complex chromosome rearrangements (CCR) that were difficult to identify by conventional karyotyping analysis and further characterize the genetic causes of recurrent spontaneous abortion. Results: By leveraging a combination of current molecular techniques, including chromosome karyotype analysis, FISH, and WGS, we comprehensively characterized the extremely complex chromosomal abnormalities in this patient with recurrent spontaneous abortions. Here, we demonstrated that combining these current established molecular techniques is an effective and efficient workflow to identify the structural abnormalities of complex chromosomes and locate the rearrangement of DNA fragments. Conclusions: In conclusion, leveraging results from multiple molecular and cytogenetic techniques can provide the most comprehensive genetic analysis for genetic etiology research, diagnosis, and genetic counseling for patients with recurrent spontaneous abortion and embryonic abortion. [ABSTRACT FROM AUTHOR]

Precise segmentation of chromosome in the real image achieved by a microscope is significant for karyotype analysis. The segmentation of image is usually achieved by a pixel-level classification task, which considers different instances as different classes. Many instance segmentation methods predict the Intersection over Union (IoU) through the head branch to correct the classification confidence. Their effectiveness is based on the correlation between branch tasks. However, none of these methods consider the correlation between input and output in branch tasks. Herein, we propose a chromosome instance segmentation network based on regression correction. First, we adopt two head branches to predict two confidences that are more related to localization accuracy and segmentation accuracy to correct the classification confidence, which reduce the omission of predicted boxes in NMS. Furthermore, a NMS algorithm is further designed to screen the target segmentation mask with the IoU of the overlapping instance, which reduces the omission of predicted masks in NMS. Moreover, given the fact that the original IoU loss function is not sensitive to the wrong segmentation, K -IoU loss function is defined to strengthen the penalty of the wrong segmentation, which rationalizes the loss of mis-segmentation and effectively prevents wrong segmentation. Finally, an ablation experiment is designed to evaluate the effectiveness of the chromosome instance segmentation network based on regression correction, which shows that our proposed method can effectively enhance the performance in automatic chromosome segmentation tasks and provide a guarantee for end-to-end karyotype analysis. [ABSTRACT FROM AUTHOR]

Clematis L. is one of the major genera of Ranunculaceae, and has important horticultural and medicinal values. In order to discuss the chromosome evolution law of Clematis plants, reveal the genetic relationship among sections and species, karyotype analysis in 21 Clematis taxa were observed. In this study, the root tips of 21 groups of Clematis were treated and pressed by conventional pressing method, the morphological characteristics of chromosomes were observed, karyotype was analyzed, and cluster analysis was carried out by Ward connection method. C. kirilowii var. chanetii, C. puberula var. tenuisepala, C. tubulosa, C. tibetana and C. peterae were reported for the first time. The results were as follows: All the 21 taxa of Clematis were diploid with x = 8(2n = 2x = 16), the genome of each taxon had at least one pair of satellites except of C. tibetana. The chromosome of C. fusca, C. peterae, C. macropetala, C. aethusifolia, C. puberula var. tenuisepala, C. flammula were ‘2B' type, C. acerifolia, C. fruticose, C. heracleifolia, C. intricate, C. grandidentata, C. brevicaudata, C. puberula var. tenuisepala, C. glauca, C. hexapetala, Clematis kirilowii, C. kirilowii var. chanetii, C. alpina var. ochotensis, C. tangutica, C. tibetana, C. tubulosa, C. vitalba were ‘2A' type. The karyotype asymmetry coefficient ranged from 60.29% to 63.79%. The chromosomes of Clematis were primitive, and the karyotypes varied widely among species. Through the above research, we can draw the following conclusions: The chromosome number of Clematis should evolve from diploid to polyploid, and then aneuploidy be produced through the polyploid diploidization process. The chromosome evolution of Clematis is mainly carried out at the diploid level, which is realized by generating chromosome structural variation, and evolve through four ways: generating heterozygous chromosomes, strengthening karyotype asymmetry, chromosome type change and satellite chromosome change. At the same time, the karyotype characteristics of Clematis are basically consistent with the traditional classification at the section level and species level, which indicates that karyotype analysis can provide new reference basis for the classification of Clematis. The results of the present study have significant scientific values in the further studies on the taxonomy, phylogenetics and resources utilization in genus Clematis. [ABSTRACT FROM AUTHOR]

Objective: This study was designed to investigate the efficiency of noninvasive prenatal testing (NIPT) for screening fetal sex chromosome aneuploidies (SCAs) through sequencing of cell-free DNA in maternal plasma. Methods: This is a retrospective study on the positive NIPT results for SCAs collected from our hospital between January 2012 and December 2018. Samples with positive NIPT results for SCAs were then confirmed by prenatal or postnatal karyotyping analysis. Results: After cytogenetic analysis, abnormal karyotypes were confirmed in 104 cases and the overall positive predictive value (PPV) of NIPT for SCAs was 43.40% (102/235). The most frequently detected karyotypes included 47,XXY (n = 42), 47,XXX (n = 20), 47,XYY (n = 16), and 45,X (n = 2). Meanwhile, 10 cases were confirmed with mosaic karyotype 45,X/46,XX and 14 cases with numerical or structural chromosome abnormalities, including a double trisomy 48,XXX,+18. Cytogenetic results from the other 131 cases showed normal XX or XY, which were discordant with NIPT results. Upon analysis of parental karyotypes, 29 (12.34%) showed false positivity in NIPT results that were caused by maternal sex chromosome abnormalities. Conclusion: NIPT is an effective screening tool for SCA with a PPV of 43.40%. Maternal karyotype abnormalities occurred in 12.34% of the cases with abnormal NIPT. Diagnostic testing of the fetus and the mother are recommended. [ABSTRACT FROM AUTHOR]

The genus Dracaena is the main source of dragon's blood, which is a plant resin and has been used as traditional medicine since ancient times in different civilizations. However, the chromosome numbers and karyotypes present in this genus remain poorly understood. In this study, fluorescence in situ hybridization (FISH) using oligonucleotide probes for ribosomal DNAs (5S and 45S rDNA) and telomeric repeats (TTTAGGG)3 was applied to analyze 4 related species: Dracaena terniflora Roxb., Dracaena cambodiana Pierre ex Gagnep., Aizong (Dracaena sp.), and Dracaena cochinchinensis (Lour.) S.C. Chen. In all 4 species, both 5S and 45S rDNA showed hybridization signals in the paracentromeric region of a pair of chromosomes; the sizes of the 45S rDNA signals were larger than those of the 5S rDNA. Importantly, the telomeric repeat signals were located in the telomeric regions of almost all chromosomes. The results indicated that the chromosome number of all 4 Dracaena species is 2n = 40, and the lengths of the mitotic metaphase chromosomes range from 0.99 to 2.98 μm. Our results provide useful cytogenetic information, which will be beneficial to future studies in genome structure of the genus Dracaena. [ABSTRACT FROM AUTHOR]

Background: Fetal echogenic bowel (FEB) is associated with an increased risk of poor pregnant outcomes; however, karyotyping fails to detect copy number variations (CNVs) in FEB. This study aimed to evaluate the performance of chromosomal microarray analysis (CMA) for detection of FEB. Methods: The medical records of 147 pregnant women with FEB recruited during December 2015 to December 2018 were retrospectively reviewed, and prenatal samples were collected for karyotyping and CMA. The detection of chromosomal abnormality was compared between karyotyping and CMA. Results: Karyotyping identified eight cases with abnormal karyotypes (5.44% prevalence), including four fetuses with pathogenic aneuploidy, three with chromosome polymorphism and one with balanced chromosome translocation. CMA identified 13 abnormal CNVs (8.84% prevalence), including 4 fetuses with pathogenic aneuploidy as detected by karyotyping and 9 additional CNVs with normal karyotypes; however, CMA failed to detect chromosome polymorphism and balanced chromosome translocation. In fetuses with isolated FEB, no cases presented pathogenic findings and CMA detected two cases with variants of uncertain significance (VOUS). In cases presenting FEB along with other ultrasound abnormalities, CMA detected three cases with pathogenic CNVs and four cases with VOUS in addition to four cases with aneuploidy. There was no significant difference in the detection of abnormal CNVs between the fetuses with echogenic bowel alone and along with other ultrasound abnormalities (10% vs 8.67%, P > 0.05). Except 9 fetuses lost to the follow-up, the other 138 fetuses with echogenic bowel were successfully followed up. Pregnancy was terminated in 5 fetuses with chromosomal abnormality, 2 with pathogenic CNVs and 1 with VOUS, and other 16 with normal karyotypes and CMA findings but showing ultrasound abnormalities or multiple malformations. Conclusion: Isolated FEB is associated with a good prognosis, and a satisfactory pregnant outcome is expected for fetuses with echogenic bowel that are negative for chromosomal anomalies and other severe structure abnormalities. CMA shows an important value in the genetic diagnosis of FEB. As a supplement to karyotyping, CMA may improve the accuracy of prenatal diagnosis of fetal intestinal malformations in pregnant women with FEB. [ABSTRACT FROM AUTHOR]

Background: Environmental lodging stress, which is a result of numerous factors, is characterized by uncertainty. However, several studies related to lodging in cereal crops have reported that lodging in the Hippeastrum rutilum environment is very rare. Hippeastrum rutilum is a garden flower with high ornamental value and abundant germplasm resources. Under past cultivation practices, it was found that the plant types of 'Red Lion', with red flowers, and 'Apple Blossom', with pink flowers, are quite different. The leaves of 'Red Lion' are upright, while the leaves of 'Apple Blossom' show lodging, which seriously affects its ornamental value. The aims of this study were to compare the differences between the two varieties with leaf lodging and upright leaves according to morphological and physiological attributes. In this study, karyotype analysis and phenotypic morphological and physiological characteristics were compared to explore the differences between the two plant types. Results: The karyotype analysis of the two cultivars showed that their chromosome types were both tetraploid plants. The results showed that the lignin content in the leaves of 'Red Lion' was high, the cross-sectional structure of the leaf vascular bundle was more stable, and the chlorophyll content was high. In addition, significantly less energy was transferred to the electron transport chain (ETR) during the photoreaction. Similarly, the results regarding the maximum photosynthetic rate (Fv/Fm), nonphotochemical quenching (NPQ) and effective quantum yield of photosystem II photochemistry (△F/Fm′) all indicated that the photosynthetic capacity of "Red Lion" was greater than that of "Apple Blossom", which was affected by leaf lodging. The size of the leaves was significantly smaller, and the leaf sag angle, leaf width, and leaf tip angle presented significantly lower values in 'Red Lion' than in 'Apple Blossom', which exhibits leaf sag. The difference in these factors may be the reason for the different phenotypes of the two cultivars. Conclusion: The results of this study proved that lodging affects the photosynthetic capacity of Hippeastrum rutilum and revealed some indexes that might be related to leaf lodging, laying a theoretical foundation for cultivating and improving new varieties. [ABSTRACT FROM AUTHOR]

Copyright of Journal of Modern Laboratory Medicine is the property of Journal of Modern Laboratory Medicine Editorial Department and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background: Classical karyotyping and copy-number variation sequencing (CNV-seq) are useful methods for the prenatal detection of chromosomal abnormalities. Here, we examined the potential of using a combination of the two methods for improved and accurate diagnosis. Methods: From February 2013 to January 2018, 64 pregnant women showing indications for fetal chromosomal examination in the affiliated hospital of the Inner Mongolia Medical University were selected for this study. Amniotic fluid was collected and used for karyotype analysis and CNV-seq. Results: Karyotype analysis of the 64 cases showed that six cases (9.38%) had chromosomal abnormalities. Using CNV-seq, in addition to three cases with numerical abnormalities of chromosomes, 14 cases were detected with CNV, of which five were pathogenic CNV, four were of uncertain clinical significance and five were polymorphic CNV. However, CNV-seq failed to detect one case with sex chromosome mosaicism and a balanced translocation carrier. The rate of abnormal chromosome and CNV detection was 26.56% (17/64) by CNV-seq. Conclusion: Application of CNV-seq in prenatal diagnosis could allow the detection of submicroscopic chromosomal abnormalities and effectively reduce the birth of children with microdeletion and microduplication syndrome. Additionally, the combined application of karyotype analysis and CNV-seq can effectively improve the detection rate of chromosome abnormalities. [ABSTRACT FROM AUTHOR]

Chromosome count, karyotypic character analysis, meiotic studies, monoploid karyograms and ideograms were performed in six taxa of Minuartia growing in Iraq (M. hamata, M. hybrida subsp. hybrida, M. intermedia, M. meyeri, M. picta and M. hybrida subsp. turcica). Species of M. hamata and M. meyeri showed 2n=2x=30 chromosome number, while M. hybrida subsp. hybrida and M. intermedia were diploid (26). The chromosome number (n=x) of six species was studied, and was found to be n=15 in M. hamata and M. meyeri, 13 in M. hybrida and M. intermedia, while in M. picta we recorded values of n= 11 and 14. Karyotype analysis of this species was first carried out in our study. Analysis of metaphases showed that the karyotype formula was mainly metacentric, submetacentric, and sub acrocentric. The sizes of the chromosomes were mainly small and very small. The course of meiosis varied from normal to abnormal. Abnormal microsporogenesis formation of two bridge chromosomes was detected in M. hamata and one bridge chromosome in M. intermedia and M. meyeri. Formation of laggard's chromosomes was detected in M. hamata, M. meyeri and M. intermedia. As well as ring chromosome was showed in M. hybrida subsp. hybrida, also, some cells contain triad cell in metaphase stage instead four cells, as well as founded cell, contains two nuclei in same species which led to reduced pollen fertility and differences in pollen grain size. [ABSTRACT FROM AUTHOR]

To explore the incompatibility of hybrids between chickens and quails at the chromosome level, in the present study, chickens, quails, and their hybrids were selected and their chromosome karyotype and banding patterns were analyzed. The methods used comprised pre paring chromosomes from air-dried peripheral blood lymphocytes, the embryo method, G-banding, and C-banding techniques. The result revealed that the number of chromosomes (2n) of chicken, quail, and their hybrids was 78, with 10 pairs of macrochromosomes and 29 pairs of microchromosomes; however, there were some remarkable differences in chromosome morphology. There were significant differences in G-banding patterns between chickens, quails, and their hybrids, among which chickens chromosomes were divided into 32 zones with 155 bands, including 71 positive bands. The quails were divided into 28 zones, with 138 bands, including 61 positive bands. C-band analysis showed that the C-band of chickens, quails, and their hybrids were present on all W-sex chromosomes in all female fission phases and were deeply stained. The combined analysis of the karyotypes and different genotypes of chickens, quails, and their hybrids could provide a reference to accelerate the breeding process. [ABSTRACT FROM AUTHOR]

The karyotypes of Tulipa sinkiangensis and T. schrenkii were analyzed based on chromosome size and the physical mapping of 5S and 45S ribosomal DNAs (rDNAs) using fluorescence in situ hybridization. The genomes from both species were consistent with the uniform karyotype formula, i.e., having four pairs of submedian and eight pairs of subterminal chromosomes (2 n =2 x =24=8sm+16st). Remarkably, the number and location of 5S rDNA loci were quite different between the two species. A single pair of 5S rDNA loci was detected on both chromosomes 5 in T. sinkiangensis , but the 5S rDNA loci were detected on almost all chromosomes in T. schrenkii , except for chromosomes 4 and 6. For both species, the 45S rDNA loci were localized to telomeric regions of the chromosome—on either the short or long arm. Interestingly, the 5S rDNA and 45S rDNA loci positions and numbers varied among different genotypes of T. schrenkii . We conclude that the two species are close relatives and that a series of genome modifications occurred during the diversification of these two species. [ABSTRACT FROM AUTHOR]

This study explored the clinical application of karyotype analysis combined with BACs-on-Beads (BoBs) technology in prenatal diagnosis. A total of 558 pregnant women who were admitted to Xuzhou Maternity and Child Health Care Hospital from July 2015 to June 2017 were enrolled in this study. All the subjects underwent amniocentesis. BoBs assay was performed for subjects in the observation group, and karyotype analysis was performed for subjects in the control group. The main technical indicators of subjects in the two groups were summarized, and cases of chromosome abnormalities were further evaluated. Clinical follow-up of their pregnancy and neonatal birth was undertaken. Finally, the chromosomal manifestations of these patients were compared with those of normal male and normal female, as well as common chromosomal abnormalities. All 558 pregnant women underwent amniocentesis again. Karyotype analysis combined with BoBs assay of amniotic fluid was performed. Cases of chromosomal abnormalities detected were: 75 cases of trisomy 21, 20 cases of trisomy 18, 1 case of trisomy 13, 27 cases of sex chromosomal abnormalities, 12 cases of balanced chromosome translocation, and 2 cases of chromosome microdeletion. The results indicated that karyotype analysis combined with BoBs technology for prenatal diagnosis was easy to perform, and provided quick results with high accuracy. The two testing methods were complementary to each other, which significantly improved the diagnostic rate of chromosomal abnormalities thus reducing birth defects and guiding continued pregnancy of high-risk pregnant women. [ABSTRACT FROM AUTHOR]

The mutations of androgen receptor ( AR) gene are the most common cause for complete androgen insensitivity syndrome (CAIS). We aimed to characterize the six cases enrolled in our hospital (the First People's Hospital of Yunnan, China) and explore the molecular mechanism of CAIS. Between 2010 and 2013, six female cases were enrolled in our hospital for the agenesis of secondary sexual characteristics. The clinical examinations such as sex hormone test and B ultrasound were performed and the genetic characterization of patients were evaluated by karyotype analysis, polymerase chain reaction and DNA sequencing. The six cases with 46, XY karyotype were diagnosed with CAIS and four novel AR mutations were discovered, which were responsible for Chinese CAIS. The molecular study of the AR gene facilitated the understanding of the mechanism of CAIS and provided the genetic counselling clinically. [ABSTRACT FROM AUTHOR]

The aim of this study was to investigate the feasibility of performing chromosomal karyotype analysis using cells cultured from fetal bladder puncture liquid (FBPL). Therefore, FBPL was extracted from 9 fetuses under ultrasonographic guidance, including 3 cases with fetal lower urinary tract obstruction (megabladder and oligohydramnios) and 6 cases with multiple malformations. The cells obtained from the FBPL were cultured in vitro for chromosome preparation and karyotype analysis. The cells from these 9 cases were all successfully cultured, and the chromosomal mitotic phases obtained could be used for counting and karyotype analysis. The gestational age ranged from 14 weeks and 2 days to 22 weeks, the amount of FBPL extracted was 30-55 ml, and the cell culture time ranged from 14 to 21 days. Eight cases in which the cells were subcultured exhibited 22-30 chromosomal mitotic phases, whereas 1 case without subculture showed 11 chromosomal mitotic phases. Cells obtained from the FBPL were successfully used for karyotype analysis following in vitro culture, thus demonstrating that prenatal fetal chromosome examination is possible in patients with a low gestational age, megabladder and oligohydramnios. These observations indicate that this technique has the potential to be used as a new prenatal diagnostic method. [ABSTRACT FROM AUTHOR]

Objectives The purpose of this study was to evaluate the diagnostic utility of karyotype analysis of amniotic fluid for fetuses with abnormal sonographic findings and to determine the detection rates of abnormal karyotypes. Methods We conducted a retrospective study of 5328 fetuses with abnormal sonographic findings in the first or second trimester enrolled from October 1998 and September 2015. Cytogenetic results from amniotic fluid were obtained in all of these pregnancies. Sonographic abnormalities were stratified according to anatomic system involvement. Results A total of 238 abnormal karyotypes were encountered in the 5328 fetuses (4.5%). The highest rate of chromosomal anomalies was in fetuses with structural abnormalities in multiple organ systems (25.7%), followed by an abnormal amniotic fluid volume (7.9%), structural abnormalities in a single system (7.3%), multiple nonstructural anomalies (7.2%), isolated placental abnormalities (7.1%), and isolated soft markers for aneuploidy (2.4%; P < .01). Among abnormalities in a single system, gastrointestinal and neck/body fluids had particularly high detection rates (26.1% and 26.2%, respectively). A detailed analysis suggested that the probability of an abnormal karyotype among every anatomic system was statistically significant ( P < .01). This study identified several common indications with extremely high abnormal rates: duodenal atresia (53.1%), holoprosencephaly (48.8%), fetal hydrops (39.5%), cerebellar hypoplasia (32.0%), cystic hygroma (31.5%), absent/short nasal bone (11.0%), and bilateral choroid plexus cysts (8.5%). Conclusions Cytogenetic analysis has important clinical utility in a wide range of settings, such as prenatal diagnosis. For fetuses with indications of a highly abnormal detection rate, karyotype analysis should be suggested. [ABSTRACT FROM AUTHOR]

Background. Women with fetal multicystic dysplastic kidneys (MCDK) are commonly referred for genetic counseling, for which identification of the correct etiology is a prerequisite. Methods. A total of 72 women with fetal MCDK at Guangzhou Women and Children's Medical Center were examined via invasive prenatal diagnosis from May 2010 to June 2015. Standard karyotyping analysis was provided to all fetuses, and chromosomal microarray with Affymetrix CytoSan HD arrays was offered to cases whose DNA samples were available. Results. Abnormal karyotypes were detected in 3 of 72 (4.17%) fetuses. Of the 69 (95.8%, 69/72) fetuses with normal karyotypes, 30 (42%, 30/69) underwent chromosome microarray analysis (CMA) testing. The CMA identified pathogenic copy number variations in five fetuses, leading to a pathogenic detection rate of 16.7% (5/30). Well-known microdeletion or microduplication syndromes including renal cysts and diabetes (RCAD) syndrome and Williams-Beuren syndrome (WBS) were identified in three cases. Moreover, four chromosomal imbalanced regions were also identified in our MCDK fetuses: 22q11.1 duplication, 4q35.2 deletion, 22q13.33 duplication and 1p33 duplication. Genes PEX26, ELN, HNF1B, ALG12, FRG1, FRG2 and CYP4A11 were possible candidates for fetal MCDK. The proportions of variants of unknown significance before and after parental analysis were 13.3% (4/30) and 3.3% (1/30), respectively. Conclusions. In the present study, the frequency of chromosomal abnormalities in MCDK fetuses was 4.17% and all rearrangements were imbalanced aberrations. CMA was able to increase the pathogenic detection rate to 16.7% in MCDK fetuses with normal karyotype. Critical regions for RCAD syndrome, WBS and copy number variants of 22q11.1 duplication, 4q35.2 deletion, 22q13.33 duplication and 1p33 duplication were associated with fetal MCDK. Genes PEX26, ELN, HNF1B, ALG12, FRG1, FRG2 and CYP4A11 were possible candidates for fetal MCDK. [ABSTRACT FROM AUTHOR]

Somatic chromosome study from root tip cells using the squash technique of the cytological method and seed protein profile of 5 varieties of Lens culinaris (Lentil) through SDS–PAGE were investigated. Karyotype analysis showed gross uniformity in morphology. Somatic chromosome number 2 n = 14 is constant for all the varieties. Chromosomes are mostly long to medium in length with secondary constrictions in one pair of chromosome. Primary constrictions in chromosome ranged from nearly median to nearly submedian in most of the cases. Notwithstanding the gross homogeneity, karyotype analysis revealed minute differences in details. Each lentil variety is thus characterized by its own karyotype, serving as one of the identifying criteria. The seed protein profile revealed that varieties are very close to each other with respect to similarity index that ranged from 0.594 to 0.690. With regard to seed protein banding patterns, slight polymorphism (14.285%) indicating low genetic diversity has been identified among the 5 varieties. A dendrogram indicates one variety is plesiomorphic and rest varieties are apomorphic. All the experimental varieties of lentil studied here show low genetic diversity due to their similar genetic base, indigenous genetic resources and conservative nature of the seed protein. [ABSTRACT FROM AUTHOR]

To understand the cytogenetic characteristics of acute fibrosarcoma in chickens infected with the subgroup J avian leukosis virus associated with the v-src oncogene, we performed a karyotype analysis of fibrosarcoma cell cultures. Twenty-nine of 50 qualified cell culture spreads demonstrated polyploidy of some macrochromosomes, 21 of which were trisomic for chromosome 7, and others were trisomic for chromosomes 3, 4, 5 (sex chromosome w), and 10. In addition, one of them was trisomic for both chromosome 7 and the sex chromosome 5 (w). In contrast, no aneuploidy was found for 10 macrochromosomes of 12 spreads of normal chicken embryo fibroblast cells, although aneuploidy for some microchromosomes was demonstrated in five of the 12 spreads. The cytogenetic mosaicism or polymorphism of the aneuploidy in the acute fibrosarcoma described in this study suggests that the analysed cells are polyclonal. [ABSTRACT FROM AUTHOR]

Background: To detect complex fetal subchromosomal abnormalities by noninvasive prenatal testing (NIPT). Case presentation: After routine prenatal serum screening, the plasma of high-risk pregnant women were tested via NIPT, and the NIPT results were further validated by fetal karyotype analysis and array-based comparative genomic hybridization (aCGH) through amniocentesis. In addition, the chromosome karyotypes of the parents were also analyzed. NIPT results indicated subchromosomal abnormalities in chromosomes 13 and 21; aCGH results showed 22 Mb and 16 Mb deletions in 13 q31.3 - q34 and 21q11.1 - q21.3, respectively; and the fetal karyotype was 45,XX, der(13),-21. The maternal karyotype 46,XX,inv(9)(p12q13),t(13;21)(q31.3;q21.3) was abnormal, while the paternal karyotype showed no obvious abnormality. Conclusion: In this study, we successfully detected complex deletions in chromosomes 13 and 21 in a fetus using NIPT, and NIPT can provide effective genetic information for the detection of fetal subchromosomal abnormalities. [ABSTRACT FROM AUTHOR]

Copyright of Ginecología y Obstetricia de México is the property of Federacion Mexicana de Ginecologia y Obstetricia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

In this study, karyotype analysis of F2BC1 progenies between sugarcane (Saccharum spp.) and Erianthus fulvus was conducted. The result showed that most chromosomes of YAU04/14, YAU09/02, YAU09/05, YAU09/26 and YAU09/52 are median region (m) chromosomes, while only a small amount of chromosomes are submedian (sm) chromosomes and median point (M) chromosomes. The karyotype formulae of five experimental materials are In - 106 - 98m + 8sm, 2n= 106= 2M + 104m, In = 106= 4M + 96m + 6sm, In = 102= 2M + 92m + 8sm and 2n = 106= 4M + 96m + 6sm, respectively. The karyotypes of all materials belong to symmetrical 2B type, indicating that the chromosomes of progenies are primitive. [ABSTRACT FROM AUTHOR]

The Karyotype analysis was performed on 46 wheat accessions belonging to five species (Triticum monococcum, T. urartu, T. durum, T. turgidum and T. aestivum) and two subspecies (T. boeoticum subsp. thaodar and T. boeoticum subsp. boeoticum) carrying A genome. All chromosomal sizes were measured with computer-aided program Micro Measure 3.3. Software. RL, TCL, MCL, arm ratio, centromeric index, TF%, mean of long and short arms, AsI%, S%, DRL, A1, A2 and karyotype formula were calculated for each chromosome. All the accessions were placed in 1A category of stebbines asymmetry categories. The scatter diagram based on A1 and A2 constructed three groups of karyotype asymmetry in the accessions studied: 1- T. aestivum with the highest asymmetrical karyotype, 2- T. monococcum, T. boeoticum subsp. thaodar and T. boeoticum subsp. boeoticum with the lowest asymmetrical karyotype and 3- T. urartu, T. turgidum and T. durum being with an intermediate between the two previous groups. T. monococcum based on the A1 and A2 index (asymmetric index) had the oldest and the most primitive karyotype among diploid species. According to the results, it might be suggested that T. durum is more primitive than T. turgidum and T. monococcum could be considered as a donor of A genome to T. durum and T. aestivum. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study was to evaluate the results of invasive amniocentesis procedures performed for karyotype analyzing in our clinic in 2012. Methods: The data of 83 cases, to whom performed amniocentesis for karyotype analyzing by reason of first trimester screening test's increased risk (⩾1/270), second trimester screening test's increased risk (⩾1/270), determination of abnormality with ultrasound and other causes, was analyzed retrospectively in 2012. Results: Eighty of 83 amniocentesis procedures performed were successful in tissue culture. Culture success rate in amniocentesis was determined as 96.4%. Chromosomal abnormality was determined as 10% of these cases (8/80). The most common indication of amniocentesis was second trimester screening test's increased risk. Amniocentesis was performed to 30 cases for second trimester screening test's increased risk and chromosomal abnormality was determined in two cases (6.6%). The second indication for amniocentesis was increased risk of first trimester screening test which was 34.9% (29/83). Chromosomal abnormality was found in 13.8% of these cases (4/29). The other indications were the determination of abnormality during ultrasonography as 15.6%, family request as 9.6%, increased quadruple screening test as 2.4%, and history of delivery with chromosomal abnormality as 2.4%. No complication was seen after amniocentesis in all 83 cases. Conclusion: Amniocentesis is the most applicable, with the least complication and the oldest prenatal diagnosis procedure in practice. Although chorionic villus sampling is first diagnosis test after first trimester screening test practically, pregnant women could come to reference centers like our hospital for different reasons after 14 weeks of gestation. Therefore, increased risk of first trimester screening test is determined as a high rate indication for amniocentesis in our center. [ABSTRACT FROM AUTHOR]

Purpose: Evaluation of the relationships existing among 3 histologic types of urothelial tumors, chromosomal instability, and telomere length. Patients and methods: We examined 37 consecutive cases of papillary urothelial neoplasm, from which 26 (70.3%) were suitable for karyotype analysis, comprising 7 papillary urothelial neoplasms of low malignant potential (PUNLMPs), 10 low-grade papillary urothelial carcinomas (PUCs), and 9 high-grade PUCs. We performed karyotype and anaphase bridge analyses, and measured telomere lengths by quantitative fluorescence in situ hybridization. Results: PUNLMPs were always diploid and had anaphase bridges. Low-grade PUCs showed diploidy (n = 2), hypoploidy (n = 4) and polyploidy (n = 4), and high-grade PUCs showed diploidy (n = 1) and polyploidy (n = 8); both had anaphase bridges. The incidence of anaphase bridges did not differ significantly between PUNLMPs and high-grade PUCs (P = 0.105). The telomere lengths of PUNLMP, low-grade PUC, and high-grade PUC, expressed as mean telomere fluorescence units (TFU)±SD, were 7906±3197, 4893±1567, and 3299±1406, respectively. The differences among the 3 groups were significant. However, 42.9% of the PUNLMPs had shorter telomeres than the mean value for low-grade PUCs, and 30.0% of the low-grade PUCs had shorter telomeres than those for high-grade PUCs. There was an inverse correlation between telomere length and the incidence of anaphase bridges. Conclusions: PUNLMP appears to progress to low-grade PUC and high-grade PUC in association with telomere shortening and chromosomal instability. Our data suggest that critically shortened telomeres cause chromosomal instability during progression of papillary urothelial neoplasms. [ABSTRACT FROM AUTHOR]

Abstract: Here we attempted to clarify telomere metabolism in parental cells and their derived clonal human induced pluripotent stem cells (iPSCs) at different passages using quantitative fluorescence in situ hybridization (Q-FISH). Our methodology involved estimation of the individual telomere lengths of chromosomal arms in individual cells within each clone in relation to telomere fluorescence units (TFUs) determined by Q-FISH. TFUs were very variable within the same metaphase spread and within the same cell. TFUs of the established iPSCs derived from human amnion (hAM933 iPSCs), expressed as mean values of the median TFUs of 20 karyotypes, were significantly longer than those of the parental cells, although the telomere extension rates varied quite significantly among the clones. Twenty metaphase spreads from hAM933 iPSCs demonstrated no chromosomal instability. The iPSCs established from fetal lung fibroblasts (MRC-5) did not exhibit telomere shortening and chromosomal instability as the number of passages increased. However, the telomeres of other iPSCs derived from MRC-5 became shorter as the number of passages increased, and one (5%) of 20 metaphase spreads showed chromosomal abnormalities including X trisomy at an early stage and all 20 showed abnormalities including X and 12 trisomies at the late stage. [Copyright &y& Elsevier]

In the paper, The main agronomic traits, low molecular weight glutenin expression and chromosome karyotype of three mutant strains of HMW_GS (B73-6-1-1, B73-6-1-2 and B73-6-1-3) and transgenic receptor L88-6 were studied. The results showed that: the differences existed among tested materials in the conditions of field cultivation. By comparison, plant height and grain weight were significantly different (P = 0. 05). SDS-PAGE analysis showed that there wasn't significant difference in part of low molecular weight glutenin area between the mutant strains , however a mutant band existed between the mutant strains and transgenic receptor. Among tested materials both the relative length and arm ratio didn't exist significant difference, by karyotype analysis and comparison. The study was aimed at the genetic mutation mechanism and providing a theoretical basis for quality improvement breeding of transgenic wheat. [ABSTRACT FROM AUTHOR]

Background Array comparative genomic hybridization (CGH) for high resolution detection of chromosome imbalance, and karyotype analysis using G-banded chromosomes for detection of chromosome rearrangements, provide a powerful diagnostic armoury for clinical cytogenetics. However, abnormalities detected by karyotype analysis cannot always be characterised by scrutinising the G-banded pattern alone, and imbalance detected by array CGH cannot always be visualised in the context of metaphase chromosomes. In some cases further techniques are needed for detailed characterisation of chromosomal abnormalities. We investigated seven cases involving structural chromosome rearrangements detected by karyotype analysis, and one case where imbalance was primarily detected by array CGH. Multicolor banding (MCB) was used in all cases and proved invaluable in understanding the detailed structure of the abnormalities. Findings Karyotype analysis detected structural chromosome rearrangements in 7 cases and MCB was used to help refine the karyotype for each case. Array CGH detected imbalance in an eighth case, where previously, G-banded chromosome analysis had reported a normal karyotype. Karyotype analysis of a second tissue type revealed this abnormality in mosaic form; however, MCB was needed in order to characterise this rearrangement. MCB provided information for the delineation of small deletions, duplications, insertions and inversions and helped to assign breakpoints which were difficult to identify from G-banded preparations due to ambiguous banding patterns. Conclusion Despite the recent advance of array CGH in molecular cytogenetics we conclude that fluorescence in situ hybridization, including MCB, is still required for the elucidation of structural chromosome rearrangements, and remains an essential adjunct in modern diagnostic laboratories. [ABSTRACT FROM AUTHOR]

Background Turner syndrome is caused by numeric and structural abnormalities of the X chromosome. An increased frequency of autoimmunity as well as an elevated incidence of autoantibodies was observed in Turner patients. The aim of this study was to conduct a retrospective analysis of the incidence of autoimmunity in 66 Italian patients affected by Turner syndrome. Methods Sixty-six unselected and consecutive Italian Turner patients were recruited. The association between age, karyotype and the presence of clinical/pre-clinical autoimmune disorders and of autoantibodies was examined. Results Out of the 66 Turner patients, 26 had thyroid autoimmune disorders (39.4%), 14 patients had Hashimoto's thyroiditis with clinical or subclinical hypothyroidism (21.2%) and 12 patients had circulating anti-thyroid antibodies, echographic pattern of diffuse hypoechogenicity and normal thyroid hormone levels (18.2%). None were affected by Graves' disease. We analyzed the overall incidence of thyroid autoimmunity within the 3 different age groups 0-9.9, 10-19.9 and 20-29.9 years. No statistically significant difference was observed in the incidence of thyroid autoimmunity within the age-groups (χ2-test p > 0.05). Out of the 66 patients, 31 patients had the 45,X karyotype; within this first group 14 out of 31 patients were affected by autoimmune thyroid disease. A second group of 29 patients included 19 patients with mosaicism, 5 patients with deletions and 5 patients with ring chromosome; out of these 29 patients 7 were affected by autoimmune thyroid disease. A third group included 6 patients with X isochromosome; 5 out of 6 were affected by autoimmune thyroid disease. A statistically significant difference in the frequency of thyroid autoimmunity within the different karyotype groups was observed (χ2-test p = 0.0173). When comparing the X isochromosome group with the pooled group of other karyotypes, of note, the frequency of thyroid autoimmunity was statistically higher in the X isochromosome group (Fisher exact test p = 0.0315). Conclusions Our data confirm a high frequency of thyroid autoimmunity in Italian Turner patients. Patients with X isochromosome are more prone to develop thyroid autoimmunity. Further, an early assay of autoantibodies and monitoring thyroid hormones is fundamental for detecting hypothyroidism earlier and start adequate replacement therapy. [ABSTRACT FROM AUTHOR]

Abstract: We describe the prenatal diagnosis and fetal phenotype of partial trisomy 12 (p12-pter) transmitted from a maternal reciprocal translocation 6;12. Genetic analysis was conducted on umbilical cord blood for a fetus accompanied with tricuspid regurgitation and orbital hypertelorism from a 27-year-old gravida 4, para 1 after sonography at gestation 35weeks. The karyotype was unusual, with 46, XY, der (6), t (6;12) (p24; p12) mat. The pregnancy was terminated at 37 gestational weeks. The aborted fetus displayed dysmorphic features of a round flat face with prominent cheeks and high forehead, hypertelorism, short nose, broad and depressed nasal bridge, anteverted nares, deformed philtrum, open mouth, thin upper vermilion and broad everted lower lip, low-set ears and aural atresia, broad hands with simian creases, and a short neck. Fetal anatomy showed right artery catheter vagus, congenital cataract, no turbinate and external auditory canals. Through karyotype–phenotype analysis of this patient and a review of other reported cases, we believe this is a first report that expands the database of partial trisomy 12p, and is beneficial for future clinical genetic counseling. This study supports that phenotypic variability depends on the type and extent of the associated partial monosomy. [Copyright &y& Elsevier]

Abstract: We describe the prenatal diagnosis and fetal phenotype of partial trisomy 12 (p12-pter) transmitted from a maternal reciprocal translocation 6;12. Genetic analysis of umbilical cord blood of a 27-year-old woman, gravida 4, para 1 at 35 weeks'' gestation due to a tricuspid regurgitation and orbital hypertelorism by sonography revealed an unusual karyotype of 46, XY, der (6) t (6;12) (p24;p12) mat. The pregnancy was terminated at 37 gestational weeks. The proband postnatally displayed by dysmorphic features of a round flat face with prominent cheeks and high forehead, hypertelorism, a short nose, a broad and depressed nasal bridge, anteverted nares, a deformed philtrum, an open mouth, thin upper vermilion and broad everted lower lip, low-set ears and aural atresia, broad hands with simian creases, and a short neck. By anatomy, the fetal was found to have right artery catheter vagus, congenital cataract, no turbinate and external auditory canal. Through the karoytpye-phynotpye analysis on the present patient and a review of other reported cases, we believed that the case was the first report, which expanded the database of partial trisomy 12p, and was of benefit for future clinical genetic counseling. At the same time, this study supported the viewpoint that phenotypic variability depends on the type and extent of the associated partial monosomy. [Copyright &y& Elsevier]

In exploring an effective and reliable karyotyping method in Brassica crop plants, Brassica oleracea was successfully karyotyped using genomic in situ hybridization (GISH). B. oleracea genomic DNA was labelled as probe using DIG-high prime mix kit, with B. rapa genomic DNA acting as blocking agent. Specific fluorescent signals were detected on each pair of homologous chromosomes, and nine pairs of chromosomes of B. oleracea were clearly identified according to the signal characteristics. A practical and accurate method for conducting karyotyping of small chromosomes has been demonstrated. [ABSTRACT FROM AUTHOR]

The karyotypic and cytological characteristics of an endemic cyprinid fish Garra persica Berg, 1913 have been investigated by examining metaphase chromosome spreads obtained from gill epithelial and kidney. The diploid chromosome number of this species was 2n = 48. The karyotype consisted of 15 pairs of metacentric, eight pairs of submetacentric and one pair of subtelocentric chromosomes (15m, 8Sm, 1St). The arm number was 94. No heteromorphic sex chromosomes were cytologically detected. Chromosome number, karyotype formula and arm number of G. persica differentiate it from G. rufa, a closely related species. [ABSTRACT FROM AUTHOR]