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A new species of Cirsium, C. taiwanense Y.H.Tseng & Chih Y.Chang from central-northern Taiwan is reported in this article. This species is similar to C. hosokawae Kitam. in having a densely cobwebby abaxial leaf surface, but differs in its yellow (vs. vivid purplish red) corolla and the angle between the midrib and the lateral veins of the leaf, which is acute as opposed to nearly at a right angle in C. hosokawae. Cirsium taiwanense has 2n = 32 chromosomes, which is different from the other species in the Taiwanese subsect. Australicirsium Kitam. (2n = 34). An identification key to the Cirsium taxa of Taiwan is presented.

Objective We present a genetic analysis of an asymptomatic family with a 4q terminal deletion; we also review other similar published studies and discuss the genotype–phenotype correlation. Methods A karyotype analysis was performed on the amniotic fluid cells of a woman at 24 weeks of pregnancy and peripheral blood lymphocytes from both parents and their older son with the conventional G-banding technique. Chromosomal microarray analysis (CMA) testing was carried out for both parents and the fetus to analyze copy number variation (CNV) in the whole genome. Results The results showed no abnormalities in the karyotypes of the father and older son, and the karyotypes of the mother and fetus were 46,XX,del(4)(q35.1) and 46,XY,del(4)(q35.1), respectively. CMA results showed a partial deletion at the 4q terminus in both the fetus and mother. The deletion region of the fetus was arr[GRCh37] 4q35.1q35.2(186,431,008_190,957,460) × 1; the loss size of the CNV was approximately 4.5 Mb and involved 14 protein-coding genes, namely, CYP4V2, F11, FAM149A, FAT1, FRG1, FRG2, KLKB1, MTNR1A, PDLIM3, SORBS2, TLR3, TRIML1, TRIML2, and ZFP42. No variation on chromosome 4 was detected in the father’s CMA results. Conclusion Deletion of the 4q subtelomeric region is a familial variation. The arr[GRCh37] 4q35.1q35.2(186,431,008_190,957,460) region single-copy deletion did not cause obvious congenital defects or mental retardation. The application of high-resolution genetic testing technology combined with the analysis of public genetic database information can more clearly elucidate the genotype–phenotype correlation of the disease and provide support for both prenatal and postnatal genetic counseling.

Background: An increase in pathogenic copy number variants (pCNVs) has been recognized to associate with fetal growth restriction (FGR). Here, we aim to explore the application value of chromosomal microarray analysis (CMA) in prenatal diagnosis of FGR.Methods: Prenatal ultrasound was applied to identify FGR. A total of 149 pregnant women with FGR were enrolled in our study. All subjects underwent karyotype analysis and CMA to reveal the chromosomal abnormalities.Results: In this study, all subjects were successfully detected by karyotype and CMA analyses. Of these subjects, the chromosomal abnormalities detection rate was 5.37% (8/149) for karyotyping and 13.42% (20/149) for CMA, respectively. Among them, an 8.05% (12/149) incremental yield of CMA over karyotype analysis was observed (p = 0.004). In addition, a significant difference of pCNV detection rate was observed between the groups with different high-risk factors (p = 0.005). The FGR with structural anomalies group showed the highest pCNV detection rate (33.33%), followed by the FGR with non-structural anomalies group (8.77%) and the isolated FGR group (8.06%).Conclusion: In conclusion, CMA technology showed an effective application value in etiology diagnosis of FGR. We believe that CMA should be recommended as first-line detection technology for prenatal diagnosis in FGR.

Objective To examine the prevalence of all chromosomal defects amongst fetuses with increased nuchal translucency thickness (NT). Methods This is a retrospective study amongst pregnant women indicated for amniocentesis by nuchal translucency above 3.0 mm and consent to the study. A total of 2,720 cases were recruited during the six-year period from 2015 to 2020. All singleton pregnancies were offered fetal karyotype when the fetal nuchal translucency was ≥2.5 mm. The prevalence of chromosomal defects was divided into five NT categories: 2.5-3.4 mm, 3.5-4.4 mm, 4.5-5.4 mm, 5.5-6.4 mm, ≥6.5 mm. Results The study identified 2,720 amniocentesis for increased NT. The mean maternal age was 29.19 (range 17-46) years, and the mean fetal crown-rump length was 66.9 (range 45-84) mm. The fetal karyotype was abnormal in 560 (20.6%) participants. The most frequent chromosomal disorders were trisomy 21 (55%), trisomy 18 (11.2%), trisomy 13 (3.9%), 45,XO (2.7%). The prevalence of chromosomal aberrations was ranged from 17.9% (NT between 2.5-3.4 mm) to 29.7% (NT≥6.5 mm). A majority of fetuses with trisomy 13, 18, or 21 has NT measurement lower than 5.5 mm. In those with Turner syndrome, there was no difference between the group with NT

Xiaorui Xie, Xiaoqing Wu, Linjuan Su, Meiying Cai, Ying Li, Hailong Huang, Liangpu Xu Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Provincial Maternity and Children’s Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, People’s Republic of ChinaCorrespondence: Liangpu XuMedical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Provincial Maternity and Children’s Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, People’s Republic of ChinaTel +86 59187554929Email xiliangpu@fjmu.edu.cnBackground: The current gold standard of karyotype analysis for prenatal diagnosis of fetuses with central nervous system (CNS) abnormalities has some limitations. Here, we assessed the value of single nucleotide polymorphism (SNP) arrays as a diagnostic tool.Methods: The results of prenatal diagnosis of 344 fetuses with CNS abnormalities as determined by ultrasonographic screening were retrospectively analyzed. All fetuses underwent chromosomal karyotype analysis and genome-wide SNP array analysis simultaneously. The resultant rates and frequencies of genomic abnormalities were compared.Results: Karyotype analysis found 45 (13.2%) abnormal CNS cases, while SNP array found 60 (17.4%) cases. SNP array detected 23 (6.7%) cases of submicroscopic abnormalities that karyotype analysis did not find. The detection rate of karyotype analysis was 8.1% in the group with isolated CNS anomalies, but 16.5% in the group with CNS abnormalities plus extra ultrasound anomalies. Detection rates of SNP array were 12.4% and 20.8% in these two groups, respectively. Statistical analysis showed that the detection rates of both methods were significantly higher in the group with CNS malformations and other ultrasound anomalies than in the group with isolated CNS anomalies. Abnormal chromosomes were detected most frequently in fetuses with holoprosencephaly.Conclusion: Genome-wide SNP array technology can significantly improve the positive detection rate of fetuses with CNS abnormalities. Combining karyotype analysis and SNP array technology is recommended for detecting the development of fetuses with abnormal CNS.Keywords: central nervous system abnormalities, chromosome, karyotype analysis, single nucleotide polymorphism microarray, prenatal diagnosis

Chromosomal abnormalities are the common genetic factors that significantly impact fertility, miscarriage possibility and abnormal offspring with unbalanced karyotype. Complex chromosomal rearrangements (CCRs) refer to structural rearrangements which involve more than two breakpoints and often more than two chromosomes. According to the mode of transmission, they can be either familial or de novo rearrangements. Here we report a complex chromosomal rearrangement leading to intellectual disability, speech delay and multiple dysmorphic features, including cleft lip and inguinal hernia. Proband karyotype shows 46,XY,ins (1::11) (q42→qter::q25) compatible to partial trisomy 1 q42→qter, while the karyotype of his mother was 45,XX, ins (1::15) (q42;q11.1→qter), t (1;11)(q42,q25) compatible to apparently normal female phenotype.

Mosaicism can be observed in karyotype analyses of amniotic fluid cells. Differentiating between true mosaicism and pseudomosaicism and determining mosaic proportions can help avoid misjudgments by doctors and effectively reduce mental and physical harm to pregnant women. However, the detection of mosaicism and mosaic proportions via karyotype analysis and fluorescence in situ hybridization (FISH) is extremely complex. We have developed a novel approach, “segmental duplication quantitative fluorescent PCR” (SD-QF-PCR), to detect mosaicism and mosaic proportions. In this study, twenty control samples and fourteen mosaic samples were tested by first-line karyotype analysis; by second-line karyotype analysis, SD-QF-PCR and FISH were used to reassess fetal sex chromosome mosaicism and mosaic proportions. Detection of the 20 control samples by second-line karyotype analysis via FISH and SD-QF-PCR showed normal and consistent results. Among the 14 mosaic samples, the numbers of samples showing true mosaicism and pseudomosaicism detected by the three methods were 6 and 8, respectively. Our study demonstrates that SD-QF-PCR can be used as a complementary method to traditional cytogenetic analysis of amniotic fluid mosaics and has clinical application value.

Xiangqun Fan,1,* Hailong Huang,1,* Xiyao Lin,2 Huili Xue,1 Meiying Cai,1 Na Lin,1 Liangpu Xu1 1Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, 350001, Fujian Province, People’s Republic of China; 2School of Clinical Medicine, Fujian Medical University, Fuzhou City, Fujian Province, 350122, People’s Republic of China*These authors contributed equally to this workCorrespondence: Liangpu Xu; Na LinFujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, No. 18 Daoshan Road, Gulou District, Fuzhou City, Fujian Province, 350001, People’s Republic of ChinaTel +86-591-87554929Email Xiliangpu@fjmu.edu.cn; 846519465@qq.comBackground: 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.Keywords: fetal echogenic bowel, chromosomal microarray analysis, karyotype analysis, copy number variation, prenatal diagnosis

Background To explore the application value of chromosomal microarray analysis (CMA) in prenatal diagnosis. Methods The results of chromosome karyotype analysis and CMA of 477 cases undergoing amniocentesis were analyzed. The results of the no ultrasound abnormality group and the ultrasound abnormality group were compared separately. Within the ultrasound abnormality group, the results of the ultrasound structural malformation group, the ultrasound soft index abnormality group, and other ultrasound abnormality (including abnormal amniotic fluid volume and fetal growth restriction) groups were compared. Results Abnormal chromosome and CMA results were found in a total of 71 cases (15.88%, 71/447), which can be broken down into a total of 23 karyotype abnormalities (5.15%, 23/447), consisting of 18 cases of aneuploidy (4.03%, 18/447), 2 cases of unbalanced chromosome rearrangements (0.44%, 2/447), and 3 cases of chimerism (0.67%, 3/447); 17 cases with detection of pathogenic copy number variations (pCNVs) (3.80%, 17/447); and 31 cases of detection of clinical variants of unknown significance (VOUS) (6.93%, 31/447). CMA detected 3.8% more genetic abnormalities than karyotype analysis (in addition to the abnormalities detected simultaneously by karyotype analysis). Between the no ultrasound abnormality group and the ultrasound abnormality group, there was an extremely significant difference in the detection rate of an abnormal chromosomal karyotype (P P P > 0.05). Comparing the ultrasound structural malformation group, the ultrasound soft index abnormality group, and the other ultrasound abnormality group, there were no significant differences in the detection rate of abnormal chromosomal karyotypes (P > 0.05), pCNV (P > 0.05) or VOUS (P > 0.05). Conclusions The detection rate of chromosomal karyotype abnormalities in prenatal diagnosis in cases with no ultrasound abnormalities was higher. For cases with fetal ultrasound structural abnormalities, when compared with traditional karyotype analysis, CMA can improve the detection rate of fetal genetic abnormalities. However, the no ultrasound abnormality group also had a high VOUS abnormality detection rate, so it is necessary to strictly define the CMA indications.

Objective To compare karyotype and chromosomal microarray (CMA) analysis of aneuploid chromosome mosaicism in amniocentesis samples. Materials and methods A total of 2091 amniocentesis samples from pregnant women were collected from March 1, 2019, to January 31, 2020. Karyotype analysis was performed using G‐banding and CMA analysis used the Affymetrix CytoScan 750K SNP microarray. Result Thirteen cases with aneuploid chromosome mosaicism were detected and compared between the karyotype and CMA methods. Seven of these cases were trisomic mosaicism, and the levels of mosaicism calculated from CMA were higher than those detected from karyotype analysis; noting three cases of trisomy mosaicism were not detected by karyotype analysis. Four cases exhibited monomeric mosaicism, and the levels of mosaicism detected in three of these cases were higher in karyotype compared with CMA analysis; one case had equivalent levels of monomeric mosaicism from both karyotype and CMA analysis. Two other cases from karyotype analysis were a mix of monosomic and trisomic mosaicism, whereas the CMA result was restricted to monosomic mosaicism for these cases. Conclusion Both karyotype and CMA analysis can be used to detect aneuploid chromosome mosaicism. However, the two methods produced different results. CMA and karyotype analysis have their own advantages in detecting aneuploid mosaicism, and the combination of these methods provides a more rigorous diagnosis.

Background Noninvasive prenatal testing (NIPT) is commonly used to screen for fetal genetic abnormalities. However, the ability of NIPT to detect copy number variations (CNVs) has not been reported. Accordingly, in this study, we analyzed the efficiency of NIPT for the detection of fetal autosomal CNVs. Methods Patients who were positive for autosomal CNVs by NIPT and underwent diagnostic studies by karyotype analysis and chromosomal microarray (CMA) were evaluated. Samples were divided into groups according to age, in vitro fertilization, fetal‐free DNA concentration, uniquely mapped reads number, CNV size, and CNV type. Results Chromosomal microarray showed that the positive predictive value (PPV) of autosomal CNVs detected by NIPT was 14.89%. Increasing fetal DNA concentrations and uniquely mapped read numbers did not affect the PPV of CNVs detected by NIPT. There were no differences between microduplication and microdeletion PPVs detected by NIPT. The PPV of CNVs less than 10 Mb was significantly higher than that of CNVs greater than 10 Mb detected by NIPT. Conclusion The accuracy of NIPT for autosomal CNVs needs to be improved., The positive predictive value of copy number variations (CNVs) less than 10 Mb was significantly higher than that of CNVs greater than 10 Mb detected by Noninvasive prenatal testing (NIPT). NIPT was effective for detecting CNVs less than 10 Mb.

Background Application of chromosomal microarray analysis (CMA) to investigate the genetic characteristics of fetal growth restriction (FGR) without ultrasonic structural anomalies at 18–32 weeks. Methods This study includes singleton fetuses with the estimated fetal weight (EFW) using the formula of Hadlock C below the 10th percentile for gestational age. FGRs without structural anomalies were selected, and the ones at high risk of noninvasive prenatal testing for trisomy 13, 18 and 21 would be excluded. The cases were divided into two groups: early-onset group (

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.

Walnuts are economically important tree species in Sichuan Province (China) that provide heathy nuts. Fluorescence in situ hybridization (FISH) and analyses of an early-fruiting gene fragment and simple sequence repeats (SSRs) were used to distinguish Sichuan walnut cultivars and examine their relationships with Juglans regia L. and Juglans sigillata Dode. Thirty-four small chromosomes were counted in four Sichuan walnut cultivars. In the four cultivars, 5S rDNA was located in the proximal regions of two chromosomes (5 and 6), while (AG3T3)3 was located at both ends of each chromosome. The existence of the signal at both chromosome ends ensured accurate chromosome counts. 5S rDNA and (AG3T3)3 were not effective in identifying Sichuan walnut cultivars. Evolutionary analysis involving 32 early-fruiting nucleotide sequences from Sichuan walnut materials were performed with the maximum likelihood method. There were a total of 602 positions. All positions with gaps and missing data were eliminated, resulting in a final dataset of 562 positions. The ML tree with the highest log likelihood (−1607.82) revealed two obvious groups: one including materials of J. regia, which fruits 1 year after grafting, and another including materials of J. sigillata, which fruits >3 years after grafting. The early-fruiting gene fragment divided 22 walnut materials (10 walnut cultivars and 12 walnut accessions) into two groups, indicating that it was somewhat effective for distinguishing Sichuan walnut cultivars. Furthermore, 22 SSR loci were revealed to identify nine walnut cultivars. Eight cultivars were exclusively discerned by one SSR locus each: Chuanzao 1 [CUJRB307 (116) or CUJRA206a (182)], Chuanzao 2 [JSI-73 (154)], Shuangzao [CUJRB103a (123), CUJRB218 (144), JSI-71 (146), or CUJRA206a (176)], Shimianju [ZMZ11 (138)], Meigupao [CUJRB218 (149), CUJRB103a (151), or CUJRA206a (190)], Muzhilinhe [CUJRB220 (136), ZMZ11 (147), CUJRC310 (156), or JSI-73 (166)], Maerkang [CUJRA124 (154), CUJRB218 (159), or CUJRA123 (182)], Yanyuanzao [CUJRA124 (150) or CUJRA206a (192)]. The Shuling cultivar was identified by the combination of ZMZ11 (148) and other SSR loci, which distinguished and excluded the Chuanzao 1 and Yanyuanzao cultivars. Our results will guide the identification and breeding of Sichuan walnut cultivars.

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.

For studying species origin, systematic evolution and phylogenetic relationship of Gazania rigens, four different G. rigens varieties, with different flower colors, were subjected to chromosome karyotype analysis. The somatic chromosome number in three varieties ‘Hongwen’, ‘Xingbai’ and ‘Richu’ was 2n = 10, while in ‘Zhongguo Xunzhangju’ it was 2n = 20. We speculate that the cardinal number of chromosomes in G. rigens plants is x = 5, in which case ‘Zhongguo Xunzhangju’ is a tetraploid. The karyotype formulae of ‘Hongwen’, ‘Xingbai’ and ‘Richu’ were 2n = 8m + 2sm, 2n = 8m + 2sm and 2n = 10m respectively. The karyotype formula of ‘Zhongguo Xunzhangju’ was 2n = 18m + 2sm. The asymmetrical karyotype coefficients of the four G. rigens varieties ranged from 53.80% to 58.84%. Only ‘Richu’ had a ‘1A’ karyotype, while the others were relatively symmetric ‘2A’. Karyotype analysis indicates that the three introduced varieties have a close genetic relationship.

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 2n = 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.

Objectives: To explore the utility of amniotic cell karyotype analysis in combined with chromosome microarray analysis in prenatal diagnosis. Methods: Chromosome microarray analysis (CMA) and amniotic cell karyotype analysis were accepted by a pregnant woman who carried a fetus with chromosome 15 aneuploidy suggested by non-invasive prenatal test (NIPT). Later on, the woman chose abortion because ultrasound detection had diagnosed that the fetus manifested hypospadias, long bone dysplasia, and abnormal vasa umbilicalis. The placenta, aborted fetus's tissues and organs were collected and verified by fluorescence in situ hybridization (FISH) technique to confirm the prenatal diagnosis. Results: Karyotype analysis of amniotic cell found only one 47, XY, +15 cell versus 49 normal cells. CMA of amniotic fluid sample indicated that there is a 75.9 Mb copy number gain on 15q11.2q26.3. FISH results of the placenta and fetal tissues from multiple organs showed that the proportion of trisomy 15 cells in placenta is significantly higher than which in other parts of the fetus. Conclusion: For fetuses with chromosome 15 aneuploidy indicated by NIPT, amniotic karyotype analysis in combined with chromosome microarray analysis could be a suitable solution for genetic diagnosis.Read Complete Article at ijSciences: V72018121883 AND DOI: http://dx.doi.org/10.18483/ijSci.1883

Background Non-invasive prenatal testing (NIPT) is extensively used in the detection of fetal trisomies 21, 18, and 13, which is promptly becoming a common clinical practice. Concerned about the clinical application of non-invasive detection of the fetal autosomal duplications or deletion. Case presentation A 34-year-old, healthy pregnant woman was referred to the First Affiliated Hospital of the Air Force Medical University. The ultrasound examination indicates that low-lying placenta, the fetus has a left ventricular bright spot and small amount of pericardial effusion. NIPT was chosen to further screen for fetal chromosomal abnormalities. NIPT results indicated an approximately 18 Mb deletion, which was verified by prenatal diagnosis. The chromosome microarray analysis (CMA) result showed about 19.2 Mb deletions in 21q11.2-q22.11. The karyotype analysis result showed 46,XN,del(21)(q11.2q22.1). Prenatal diagnosis was consistent with NIPT results, and the paternal karyotype revealed no obvious abnormalities. Conclusion In this study, we successfully detected and diagnosed deletions of large fragments in chromosome 21 in a fetus using NIPT. This indicates that NIPT can provide effective genetic information for detecting fetal subchromosomal deletions/duplications.

Background Chromosomal abnormalities are one of the genetic mechanisms associated with abortion. However, the roles of submicroscopic chromosomal imbalances in early abortion are still unclear. This study aims to find out whether submicroscopic chromosomal imbalances contribute to early abortion. Methods A total of 78 chorionic villus specimens from early spontaneous abortion patients with no obvious abnormality are collected after miccroassay analysis (the case group). At the same time, 60 chorionic villus specimens from induced abortion patients with no obvious abnormality are selected as the control group. The submicroscopic structures of chromosomes from two groups are analyzed using an array-based comparative genomic hybridization (aCGH). Results In the case group, 15 specimens show submicroscopic chromosomal abnormalities including 14 micro-deletion/micro-duplication in chromosomes 2, 4, 5, 6, 7, 8, 9, 12, 15, 16, 18, and 22, and 1 uniparental disomy (UPD) in chromosome 19. Moreover, no pathogenic copy number variations are found in the control group. The results between these two groups exhibit significantly statistical difference. Conclusion Submicroscopic chromosomal imbalances may be one of the main reasons for early abortion. Electronic supplementary material The online version of this article (10.1186/s13039-018-0386-0) contains supplementary material, which is available to authorized users.

In the present paper we report an extremely rare case of mosaicism of 45,X/47,XX,+13 in a 28-year-old women. The patient was referred for cytogenetic evaluation for secondary amenorrhoea. The patient was found to have some mild characteristic features of Turner syndrome such as wide carrying angle and short stature. Ultrasound examination revealed the presence of a small sized uterus and bilateral streak ovaries. G-banded chromosome analysis revealed a mosaic female karyotype involving two different cell lines. One cell line (72% of analysed metaphases) presented monosomy of X while the remaining 28% of cells showed trisomy of chromosome 13. Fluorescence in situ hybridization (FISH) with locus specific probe for trisomy 13 and CEP X for monosomy X substantiated the results obtained from karyotyping., Highlights • We report here the rare case of Trisomy 13/monosomy X mosaicism. • A 28-year-old women presented for cytogenetic analysis diagnosed with secondary amenorrhoea • She had all the prominent features of Turner syndrome at presentation. • Cytogenetic investigation was performed on lymphocyte chromosomes. • The karyotype revealed the presence of mosaic Turner and Patau syndrome.

A molecular cytogenetic study has been performed in three species of the genus Artemisia, complementing previous works on two subgenera that had been scarcely studied from this standpoint, Artemisia ( A. chamaemelifolia, A. vulgaris) and Absinthium ( A. absinthium). Chromomycin A3 and 4',6-diamidino-2-phenylindole (DAPI) banding have been carried out, as well as fluorescent in situ hybridization (FISH) of 5S and 18S-5.8S-26S ribosomal DNA. Morphometrical data of karyotype characters were calculated and idiograms with the position of the AT- and GC-rich regions as well as rDNA loci were constructed. Colocalization of most of these regions has been observed, confirming previous findings in this genus. Both ribosomal DNA appear always colocalized, which is a distinct feature with respect to most angiosperms surveyed. Regarding the differential characteristics of each species, a symmetrical karyotype has been found in the species studied. Artemisia absinthium shows long chromosomes and absence of centromeric banding signals that, conversely, are absent in A. vulgaris andA. chamaemelifolia. The last species also presents B-chromosomes in which ribosomal DNA and heterochromatin have been detected. Despite these differences, karyotype morphology and signal pattern of the three species are quite coincidental. This might reflect a close phylogenetic relationship between both subgenera, which is consistent with the available molecular phylogenies presenting species of the subgenera Artemisia and Absinthium intermixed.Se ha llevado a cabo un estudio citogenético molecular en tres especies del género Artemisia, que complementa trabajos previos sobre dos subgéneros que han sido poco estudiados desde este punto de vista, Artemisia (A. chamaemelifolia, A. vulgaris) y Absinthium (A. absinthium). Se han efectuado tinciones de bandeo con cromomicina A3 y con 4',6-diamidino-2-fenilindol (DAPI), así como hibridación in situ fluorescente (FISH) del ADN ribosómico 5S y 18S-5.8S-26S. Se han calculado los datos morfométricos relativos a los caracteres del cariotipo y se han construido los idiogramas con indicación de la posición de las regiones ricas en AT y GC y los loci del ADNr. Se ha observado la colocalización de la mayoría de estas regiones; tal como se había mencionado en otros estudios sorbe el género, ambos ADN ribosómicos aparecen siempre colocalizados, lo que constituye un rasgo distintivo con respecto de la mayor parte de angiospermas. En cuanto a las características diferenciales de cada especie, A. absinthium muestra cromosomas largos, un cariotipo simétrico y carece de bandas centroméricas, que, por el contrario, aparecen en A. chamaemelifolia y A. vulgaris. La última especie presenta, además, cromosomas B en los que se ha detectado ADN ribosómico y heterocromatina. A pesar de estas diferencias, la morfología del cariotipo y el modelo de bandas de las tres especies son muy similares. Esto puede reflejar una relación filogenética estrecha entre ambos subgéneros, lo que es coherente con las filogenias moleculares hasta ahora publicadas para el género, que presentan mezcladas especies de los subgéneros Artemisia y Absinthium.

WOS: 000378895400005, In this paper, we aimed to determine the chromosomal features of Turkish endemic Rhaponticoides species. The chromosome numbers and karyomorphology of five species were examined. The chromosomal counts confirmed the previous reports of 2n = 30 given for Rhaponticoides species growing in different countries. Although R. iconiensis had a karyotype formula of 28m + 2sm, the remaining four species all had 26m + 4sm. Rhaponticoides aytachii and R. hierroi were especially similar in asymmetry indices. Rhaponticoides iconiensis and R. phytiae had satellites in the fourth and second chromosome pairs, respectively. Having the most symmetrical chromosomes, R. amasiensis displayed an important relationship with R. iconiensis and R. phytiae in terms of total chromosome length (TCL). If we make an overall assessment in terms of chromosomal asymmetry, chromosomes indices continues in the low range for each species and this low asymmetry indeces indicate that the species have symmetric chromosomes as karyomorphology. In conclusion, this is the first report which describes the karyotypes and chromosomal asymmetry indices of Turkish endemic Rhaponticoides species., Selcuk University [BAP-Project] [10401032], We are grateful to Selcuk University [BAP-Project No: 10401032] for financial support in this study.

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.

WOS: 000226434300005, The cytological features including chromosome numbers, detailed chromosome measurements and 4C DNA values were reported in Achillea sipikorensis and A. sintenisii from Turkey. Total chromosome lengths, relative lengths, long/short arm ratios and centromeric index of mitotic chromosomes were calculated. Somatic chromosome numbers were found to be 2n=2x=18 in A. sipikorensis and 2n=4x=36 in A. sintenisii for the first time. The mean of chromosome length ranged from 6.92+/-0.08 to 9.23+/-058 mum in A. sipikorensis and from 6.54+/-0.91 to 9.62+/-0.79 mum in A. sintenisii. The karyotype consists of six pairs metacentric chromosomes, two submetacentric pairs and a subtelocentric pairs in A. sipikorensis and of fifteen pairs metacentric chromosomes, a submetacentric pairs and two subtelocentric pairs in A. sintenisii. The nuclear DNA C-value was estimated to be 4C=24.63+/-0.01 pg of A. sipikorensis and 4C=35.73+/-0.05 pg of A. sintenisii.

WOS: 000368721700010, In this paper, four endemic Centaurea species were investigated in terms of their chromosome numbers and karyomorphology. The chromosomal counts confirmed the results of previous reports, that the genus Centaurea has different basic chromosome numbers. Centaurea yaltirikii and Centaurea demirizii are diploid taxa. Centaurea yaltirikii has 2n = 18 chromosomes, and therefore has a basic chromosome number of nine, which is common in the genus Centaurea. A local endemic species, Centaurea demirizii has 2n = 16 chromosomes and a different basic chromosome number of x = 8, and this basic number is relatively rare for Centaurea. Centaurea leptophylla and Centaurea saligna are tetraploid with 2n = 36 chromosomes. We found predominance of chromosomes being metacentric and submetacentric. The results increase our karyological knowledge of these species. Moreover, this paper gives short taxonomic and morphologic notes to complement the information provided by Flora of Turkey with regards to the studied species., Selcuk UniversitySelcuk University [2003/052], We thank the Scientific Investigation Project Coordinator of Selcuk University [project number: 2003/052] for their financial support.

In the present Research, the chromosome number and morphology of Salvia wiedemannii Boiss. and Salvia tchihatcheffii (Fisch and Mey) Boiss. were analyzed. These species are endemic o Turkey. The chromosomes number of Salvia wiedemannii Boiss. is 2n = 14, Salvia tchihatcheffii (Fisch and Mey) Boiss. is 2n = 18. © 2006 Asian Network for Scientific Information.

A cytotaxonomical description of Cyclopogon (Spiranthinae, Orchidaceae) is carried out through a deep karyotype analysis of four species from NE Argentina. Distinctive karyotype parameters concerning the chromosomes number, morphology, size and symmetry and the genome size associate to each taxon. Cyclopogon calophyllus (2n = 2x =28; 18m + 10sm), C. congestus (2n = 2x = 32; 26m + 6sm), C. elatus (2n = 2x = 28; 18m + 10sm) and C. oliganthus (2n = 4x = 64; 40m + 24sm) possess symmetrical karyotypes (i-mean = 40. 01-42. 84; A1 = 0. 24-032; r>2 = 0. 06-0. 29) and excluding C. congestus (A2 = 0. 26; R = 2. 62) unimodality is the rule (A2 = 0. 12-0. 20; R = 1. 73-1. 92). Diploid taxa show a terminal macrosatellite in the m pair no. 2 (large arm) and share a comparable mean chromosome length (ca. 2. 75 μm) and genome size (ca. 40 μm), superior to the tetraploid C. oliganthus (ca. 2 and 32 μm, respectively). The novel data added to preceding cytological, morphological and molecular approaches involving Cyclopogon and those related taxa of Spiranthinae largely based on x = 23 support the hypothesis that the unusual 2n and the karyotype morphology of Cyclopogon is an evolutionary advance within Spiranthinae with a basic reduction to x = 14 or 16 by chromosome fusions. A polyploid-dysploid series added to dibasic hybridization explain the extant 2n diversity though a paleopolyploid series on x = 7-8 is also possible. Fil: Grabiele, Mauro. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Nordeste. Instituto de Biología Subtropical. Instituto de Biología Subtropical - Nodo Posadas | Universidad Nacional de Misiones. Instituto de Biología Subtropical. Instituto de Biología Subtropical - Nodo Posadas; Argentina Fil: Cerutti, Juan Carlos. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Nordeste. Instituto de Biología Subtropical. Instituto de Biología Subtropical - Nodo Posadas | Universidad Nacional de Misiones. Instituto de Biología Subtropical. Instituto de Biología Subtropical - Nodo Posadas; Argentina Fil: Hojsgaard, Diego Hernan. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Nordeste. Instituto de Botánica del Nordeste. Universidad Nacional del Nordeste. Facultad de Ciencias Agrarias. Instituto de Botánica del Nordeste; Argentina. University of Vienna; Austria Fil: Almada, Rubén D.. Instituto de Investigaciones Agropecuarias; Chile Fil: Daviña, Julio Rubén. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Nordeste. Instituto de Biología Subtropical. Instituto de Biología Subtropical - Nodo Posadas | Universidad Nacional de Misiones. Instituto de Biología Subtropical. Instituto de Biología Subtropical - Nodo Posadas; Argentina Fil: Honfi, Ana Isabel. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Nordeste. Instituto de Biología Subtropical. Instituto de Biología Subtropical - Nodo Posadas | Universidad Nacional de Misiones. Instituto de Biología Subtropical. Instituto de Biología Subtropical - Nodo Posadas; Argentina

Bu çalışmada, Cirsium cinsinin (Asteraceae) Türkiye'de yetişen 6 türünün (C.sipyleum O.Schwarz., C.arvense (L.) Scop., C.libanoticum. DC. subsp. arachnoideum Davis & Parris., C. alatum (Gmelin) Bobrov subsp. alatum, C. creticum (Lam.) d'Urv. subsp. creticum, C. leucopsis DC.) karyolojik özellikleri incelenmiştir. İncelenen türlerin kromozom çalışmaları için tohumlarından yararlanılmıştır. Bölünür somatik hücrelerde yapılan çalışmalar sonucunda türlerin kromozom sayımları ve karyotip analizleri yapılarak idiogramları çizilmiştir. Türlerden; C.sipyleum, C.arvense, C.libanoticum, C.alatum, C.creticum ve C.leucopsis'in kromozom sayısı 2n=34 olarak bulunmuştur. Kromozomların; median noktalı (M), median bölgeli (m), submedian (sm) ve subterminal (st) sentromerli olduğu tespit edilmiştir. In this study, karyologic properties of six species of Cirsium genus?s (C. sipyleum O.Schwarz., C.arvense (L.) Scop., C. libanoticum DC. subsp. arachnoideum Davis & Parris, C.alatum (Gmelin) Bobrov. subsp. alatum, C.creticum (Lam.) d?Urv. subsp. creticum, C. leucopsis DC.) which are grown in Turkey, were investigated. Seeds of the examined species were benefited from for chromosome studies. In consequence of the studies performed in divisible somatic cells, chromosome counts and karyotype analyses of species were done and idiograms were generated. It is found that among species chromosome number for C.sipyleum, C.arvense, C.libanoticum, C.alatum, C.creticum and C.leucopsis is 2n=34. It is confirmed that the chromosomes are median point (M), median region (m), submedian (sm) or subterminal (st) centromeres. 60

WOS:000264578100010 In this study, the karyotype analyses of the four species of Quercus L. were examined. The chromosome numbers in Q. libani Olivier, Q. petraea (Mattuschka) Lieb. subsp. iberica (Steven ex Bieb.) Krassiln., Q. coccifera L. and Q. infectoria Olivier subsp. infectoria Olivier were determined as 2n=24. The karvotypes of all species consist of only metacentric chromosome pairs. Chromosome lenghts change between 0.81-2.18 in Q. libani, 0.86-1.66 in Q. petraea subsp. iberica, 0.93-1.98 in Q.coccifera and 0.91-1.96 in Q. infectoria subsp. infectoria, respectively. The karyotype analysis of these species were first time counted in Turkey.

ttThe DNA content and GC% of the four true cedar (Cedrus) species, C. atlantica, C. brevifolia, C. deodara and C. libani, were assessed. Genome size was homogeneous among representative populations of the four species with an average of 32.6-0.6 pg per 2 C or 15.72109 base pairs per 1 C. The composition in GC was calculated to be 40.7%. A simple monosomatic haploid level was found in the megagametophyte, as compared to the diploid level of the corresponding embryo. Cytogenetic studies showed a diploid chromosome number of 2n=2x=24 in 11 populations sampled over the four species. The chromosome complements have similar morphology and symmetry. However, fluorochromes revealed specific banding patterns in each of the four cedar species. Eight GC-rich chromomycin A3 bands were observed in Cedrus deodara chromosomes, six in both Cedrus libani and Cedrus brevifolia, and four bands in Cedrus atlantica chromosomes. Moreover, Hoechst 33258 fluorochrome revealed AT-rich sequences specifically located in the centromeric regions while the GC-rich sequences appeared negatively stained. These investigations provide a systematic characterisation of the Cedrus genus and should contribute towards clarification of the phylogenetic relationships among the four species.

SUMMARY Karyotype and relative DNA content were used to characterize Lactuca sativa, L. serriola, L. saligna and L. virosa and to determine their evolutionary relationships. In these species karyotype analyses requiring the identification of the homologues are unreliable, because not all chromosomes can be distinguished by their length and centromere position, and no useful additional cytological markers are available. Therefore the karyotypes were established using numerical parameters describing the whole metaphase complement rather than the individual chromosomes, namely: intra- and interchromosomal asymmetry index, total chromosome length and area, and number of discernible satellites. The karyotype data were supplemented with data on relative DNA content. No significant differences were found between L. sativa and L. serriola, whereas L. saligna differed significantly from L. sativa/serriola only in its relative DNA amount. L. virosa differed from L. saligna and L. sativa/serriola for all parameters. The largest differences were found between L. saligna and L. virosa, although both have asymmetric karyotypes compared to L. sativa/serriola. Since asymmetric karyotypes in Compositae tribe Cichorieae (including Lactuca) are considered to be derived it follows that L. saligna and L. virosa are advanced species that evolved in different directions.

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.