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To explore the feasibility and accuracy of MLPA-based array (Array-MLPA) in detecting sex chromosome abnormalities, MLPA probes were designed to target against three gene loci, TSPY (p11.2), PRY (q11), and RBMY (q11.2) in human Y chromosome. Array-MLPA approach was applied to test abnormalities of Y chromosome in 15 patient samples with known karyotypes. The data were compared with karyotyping and PCR analyses. The results showed that the copy number of each site detected by Array-MLPA was basically consistent with karyotyping analysis. Moreover, small deletions of chromosomes that were not found by routine karyotyping analysis were identified by the approach described, which fully agreed with PCR analysis, indicating that Array-MLPA was able to detect small abnormalities of chromosomes that cannot be found by karyotyping analysis. Compared to the routine karyotyping method, Array-MLPA has the advantages of high efficiency and reliability in chromosomal analysis, which has great potential in clinical application of diagnosis of chromosome abnormalities.

Aim: The aim of this study is to assess the replacement of chromosomal analysis of chorionic villi (CV) direct preparation samples (DIR) by quantitative fluorescence PCR (QF-PCR) and to determine its advantages in routine prenatal diagnosis. Methods: From a total of 4,020 CV samples, rapid results were obtained either by conventional cytogenetic analysis of DIR in 2,770 samples, or by QF-PCR analysis in 1,250 samples. The final results were given after long-term culture (LTC). Results: The frequencies of unbalanced fetal karyotypes were not significantly different, being 4.8% by DIR-LTC and 4.3% by QF-PCR-LTC. No false-negative or false-positive results were obtained from either approach. Conclusion: QF-PCR can replace chromosomal analysis of CV-DIR in most cases during routine prenatal diagnosis, requiring smaller CV samples and being more labor effective. Coupled with LTC, it is a robust diagnostic approach with high predictive value for the most frequent fetal trisomies.

The findings of diploid-tetraploid mosaicism in cultured amniotic fluid cells is considered a culture artifact. On rare occasions its presence indicates a chromosomally abnormal fetus with multiple congenital defects. We present here a patient who in her previous pregnancies had delivered one hydrops and two macerated fetuses. The reported pregnancy also resulted in a fetus with severe hydrops. Cytogenetic analysis of cultured amniotic fluid cells revealed diploid-tetraploid mosaicism in the fetus also confirmed in fetal cord blood and skin fibroblasts. Chromosomal analysis of the parents revealed mixoploidy in the mother. These findings are extremely important for prenatal diagnosis and prompt us to not uniformly dismiss tetraploidy as artifactual but to confirm it especially in cases with ultrasound abnormalities.

Three female patients with Menkes syndrome are described. Clinically, they have typical Menkes syndrome. Biochemically, they have significantly increased 64Cu-uptake in cultured fibroblasts. The chromosomal analysis was normal for two of the patients and abnormal for one patient (45X/46XX mosaicism).

Among 13 patients with congenital proximal radioulnar synostosis the chromosomal analysis revealed a 47, XXY-constellation in an 8 years old boy and a 47, XXX-syndrome in a 12-year-old girl. The investigations show, that the congenital radio-ulnar synostosis may be combined with the chromosome aberration more often than it was commonly thought.

The Onthophagus fracticornis (Preyssler, 1790) group of species within the subgenus Palaeonthophagus Zunino, 1979 presents a number of taxonomic difficulties. In particular, the taxonomic status of O. similis (Scriba, 1790) and O. opacicollis Reitter, 1893 as separate species has been disputed. MartinPiera and Lopez-Colon (2000) report that while all current researchers agree that O. fracticornis is a distinct species, only some take the same view of O. similis and O. opacicollis, with others regarding them as ecologically determined variants of a single polymorphic species. In an attempt to resolve this controversy, MartinPiera and Boto (1999) subjected Spanish populations of all three taxa to allozyme analysis. They concluded that O. fracticornis was a species completely distinct from the other two, but that O. similis and O. opacicollis appeared to be sibling species between which there was sometimes an exchange of genetic material. However, in a study of the chromosomes of 21 species of Oniticellini and Onthophagini, Wilson and Angus (2005) demonstrated clear differences between the karyotypes of English and French O. similis and Cypriot O. opacicollis and noted the usefulness of chromosomes in demonstrating differences between difficult species. The chromosomal differences between O. similis and O. opacicollis found by Wilson and Angus appear sufficient to suggest that any hybridisation between them would result in chromosomal imbalance and at best decreased fertility. However, their data base was small and based on material from widely separated areas – England and France for O. similis, and Cyprus for O. opacicollis. Thus some degree of geographical variation cannot be ruled out as an explanation for the observed differences. The present work seeks to address this problem by subjecting larger and more broadly based samples of these species, including material from areas of sympatry, to chromosome analysis, and also takes the opportunity to include O. fracticornis in the study.

Identifying the origin of a malignancy post transplantas being either donor-derived or recipient-derived hasimportant clinical consequences, including withdrawalof immunosuppression and retransplantation. It alsohas implications for other recipients of donor organs. Insex-mismatched allografts, this distinction can bemade with chromosomal analysis.

A previous publication (Wilson & Angus 2005) gave information on the karyotypes of species of Oniticellini and Onthophagini studied by C. J. Wilson in her Ph. D. research (Wilson 2002). The present paper reports on the remaining Scarabaeidae (Gymnopleurus geoffroyi Illiger, Copris lunaris (Linnaeus) and Onitis belial Fabricius) included in that research, with additional material collected by R. B. Angus (European and Cypriot material) and D. J. Mann (Malaysian material).

The detection of tumor cells is critical for early diagnosis of primary and metastatic tumor as well as for monitoring the anti-cancer treatment effect. Fluorescence in situ hybridization (FISH) probes have been utilized to detect the unique characteristics of either over-expressed oncogenes or abnormalities of chromosomes in tumor cell nuclei. Automated quantification of chromosomes and their interphase cell nuclei is required for high-throughput analysis of cellular dynamics, especially in clinical applications. We present a fully automated FISH image processing pipeline that is able to robustly detect and characterize both cells and chromosomes in a parallel way. Nuclei and chromosomes are treated with different strategies because of inconsistent internal features and external needs, and then re-associated for consolidated chromosomal analysis and tumor cell characterization. Experimental results of the combined workflow showed the high accuracy and efficiency of the both chromosome detection and cell segmentation.

The aim of the study is to evaluate the cytotoxic effect of effluents at inducing chromosomal aberrations, using this as a biomarker tool in wild Clarias pachynema for assessing and monitoring pollution of the aquatic environment. A total of 60 live fish (30 each downstream and upstream) were obtained and subjected to chromosomal analysis. Chromosomal aberration in the fish samples from the downstream sector was recorded at a rate of 30%, while there were no aberrations in the samples collected upstream the effluent discharge point. Water sample analysis revealed a high concentration of Ammonia and Nitrates above permissible standards of Federal Environmental Protection Agency (FEPA) guidelines. Heavy metal analysis also revealed the presence of Cr (0.05), Cu (0.01), Pb (0.05), Zn (5.0) and Fe (0.3) above permissible standards from the downstream section of the river. This study shows clearly that the ever increasing discharge of effluents from the industry could increase chromosomal damage in the aquatic components.

Objectives: Hypogonadism is the clinical manifestation of the impaired function of the testes and the ovaries, and is either due to endocrinological problems or chromosomal abnornlalities (CA). Chromosomal analysis is one important piece in the hypogonadism individuals, and becomes essential from the clinical point of view. Design: To determine the frequency, types of CAs in a hypogonadism population. Materials and method: The current study was a retrospective analysis to examine the CAs and prevalence in 64 cases with unexplained hypogonadism problem. The samples were cultured routinely for the karyotype analysis using G banding. Results: A total of 64 individuals with infertility was analysed. The karyotype results were normal in 52 (81.2%) of 64 individuals. However, CAs were detected in 12 (18.8%) of all individuals. The 15.6% of these CAs was numerical aberrations, and also structural CA was 3.1%. Specifically, Klinefelter syndrome (KS) was the most common karyotype (14.1%,9 cases) among the all cases, followed by 46,XX,anoploidy; 46,Xi(Xq) and 46,XY,robt(14;15). Conclusion: We found a high rate CAs (18.8%) in patients with hypogonadism. Therefore, cytogenetic analysis can be strongly recommended in hypogonadism individuals, and should be performed routinely in both the male and female with hypogonadism.

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Due to detection of fetal microcephaly at 24 weeks’ gestation, we performed an amniocentesis at 29 weeks with chromosomal analysis and polymerase chain reaction (PCR) to investigate the presence of viral contamination. Cytomegalovirus (CMV) infection was confirmed by PCR, although the mother had preconceptional CMV immunity. The fetus showed classical CMV inclusion disease. Recent publications explain similar observations by the variability of viral strains. These findings highlight the importance of being alert to ultrasonographic signs of CMV reinfection in pregnant women with preconceptual immunity.

A review of principles for application of the morphology of the karyotype in the taxonomy of parasitic wasps is given. Specific character of the use of chromosomal characteristics at different taxonomic levels is determined. In the taxonomy of hymenopterans, the data on the morphology of the karyotype are the most important at the species level. By the taxonomic level and the degree of morphological isolation, closely related species of parasitic wasps, differing in the structure of chromosomal sets, can be subdivided into the following groups: well-distinguishable species; species with indistinct differences in the appearance (proper sibling species); morphologically identical populations; intrapopulation forms; specimens with spontaneous chromosomal mutations. It is suggested that chromosomal studies in the taxonomy of hymenopterans should be used as a method of express analysis of outdoor populations and laboratory strains of these insects.

The histologic diagnosis of tumors based upon tissue architectural changes, cytologic examination of cells, and immunohistochemical reactions is the mainstay of any surgical pathology laboratory. However, a wide variety of cytogenetic and molecular assays not only provides extremely usefill information regarding patient diagnosis but also carries valuable prognostic and therapeutic inlplications. Cytogenetic data are particularly applicable to the diagnosis of a myriad of hematologic malignancies and solid tumors. Here, we describe a variety of classic and molecular cytogenetic techniques that are used routinely in the diagnosis of these tutnors, with a focus on classical chromosomal analysis and fluorescence in situ hybridization. In addition, spectral karyotyping, comparative genomic hybridization, and array technology are discussed. (The J Histotechnol 28:209, 2005)Submitted November 9, 2005; accepted with revisions Decelnber 1, 2005

The Helophorus leontis complex is reviewed in the light of karyotype analysis. One new species, H. biltoni sp. nov., is described from Iran, and H. dixoni Angus is regarded as a distinct species, not a subspecies of H. leontis Angus. The karyotypes of the three species are figured, and show the chromosomes of the three species to have a different sequence or relative chromosome lengths along the karyotype. Meiotic first metaphases of H. biltoni and H. leontis are figured, and show that these species have differently sized sex chromosome bivalents. These data indicate translocational differences between the karyotypes of the three species, which would render hybrids infertile. The aedeagophores of the three species are figured and shown to be morphologically identical. Figures of the heads and pronota are given and show H. biltoni to have a distinctively inflated pronotum. The distributions of the three species and the problem of different species with morphologically identical aedeagophores are d...

The present study was conducted to analyse the chromosomes of blood culture and oocyte chromatin quality at the time of recovery in dromedary camels in relation to age. Twelve young (about one year) and twelve adult (4–10 years old) female camels were used. These animals with unknown reproductive history were slaughtered in Kerdasa abattoir (Giza province, Egypt). Blood samples were collected via sterile syringes from camels before slaughtering for chromosomal analysis. Oocytes from ovaries of both ages were aspirated from small antral follicles 1 to 5 mm in diameter and classified according to their quality into four categories. Nuclear status of cumulus oocytes complexes (COCs) were evaluated directly after collection. The results indicated that, the frequencies of chromosomal abnormalities and sister chromatid exchanges (SCE'S) were increased significantly (p

Potocki-Lupski syndrome results from the duplication of chromosome 17 band p11.2. This is the first report of a case of Potocki-Lupski syndrome with teratologic dislocation of both hips. The diagnosis was made by chromosomal analysis. The association between Potocki-Lupski syndrome and musculoskeletal disorders may help elucidate the etiology and prognosis of the syndrome.

Triple X syndrome is a sex chromosome abnormality characterized by extra X chromosome, occurring in approximately 1 in 1,000 female births. This condition often remains undiagnosed as most of them have normal phenotype, puberty and fertility. We report a case of Triple X syndrome with normal phenotype and intelligence presented with secondary amenorrhea and diagnosed to have premature ovarian failure. This case emphasizes the need for chromosomal analysis in women presenting with premature ovarian failure leading to primary or secondary amenorrhea.How to cite this articleChandana C, Venkatesh S. Triple X Syndrome Woman Presenting as Premature Ovarian Failure. Int J Infertility Fetal Med 2013;4(3):96-98.

The technique of measuring the frequency of dicentric chromosomal aberrations in blood lymphocytes was used to estimate doses in a simulated criticality accident. The simulation consisted of three exposures; approximately 5 Gy with a bare source and 1 and 2 Gy with a lead-shielded source. Three laboratories made separate estimates of the doses. These were made by the iterative method of apportioning the observed dicentric frequencies between the gamma and neutron components, taking account of a given gamma/neutron dose ratio, and referring the separated dicentric frequencies to dose-response calibration curves. An alternative method, based on Bayesian ideas, was employed. This was developed for interpreting dicentric frequencies in situations where the gamma/neutron ratio is uncertain. Both methods gave very similar results. One laboratory produced dose estimates close to the eventual exercise reference doses and the other laboratories estimated slightly higher values. The main reason for the higher values was the calibration relationships for fission neutrons.

It has been a century since the first human genetic disorders were recognized, but only recently have there been any prospects that the genetic approach would become integral to medical practice. Throughout most of the 20th century, medical genetics has focused on rare monogenic and chromosomal disorders. There were major successes, including chromosomal analysis, prenatal diagnosis and newborn screening for inborn errors of metabolism, but the impact was confined to a relatively narrow corner of medicine. The situation has changed, however, with advances in genetics and especially with the sequencing of the human genome. The tools are now at hand to begin to understand the genetic basis of common as well as rare disorders. It is expected that this will lead to major advances in both diagnosis and treatment, so that physicians in all areas of medicine will be using the tools of genetics in their daily practice.

Congestive Heart Failure (CHF) is a condition in which a weakened heart cannot pump enough blood to body organs and the blood backs up into certain body tissues. This study investigates the haematological, biochemical and cytogenetic changes in patients with CHF. Significant alterations were observed in leucocyte count and lipid profile, and Chromosomal analysis revealed major aberrations such as deletions, translocations, inversions, satellite formation, mosaicism and deletion of sex chromosome in the Experimental subjects. The results are discussed pertaining to the recent literature.

Neurosurgeons and their patients frequently confront meningiomas. While some meningiomas can be treated with complete removal and freedom from recurrence, others are difficult to treat for several reasons. Particular locations, recurrent tumors, and pathological subtypes can all complicate the treatment of meningiomas. In an effort to better understand these tumors, a sizable body of literature has evolved describing the biology and basic science of meningiomas. It is hoped that this research will result in better medical and surgical treatment of these tumors. This article reviews the basic science issues currently thought to be important in meningiomas.

A cytogenetic investigation was carried out on 39 Argentinean Creole cattle (8 bulls and 31 cows) from the Experimental Station in Chamical (La Rioja, Argentine). Heparinised blood sam- ples were cultured using a method of Moorhead et al. with some modifications. Karyotypes were es- tablished using a chromosomal digital analyser. A presumptive 1/29 Robertsonian translocation was found in one bull which had 2n = 59 chromosomes. The remaining animals appeared chromosomally normal. The 1/29 translocation has been diagnosed in other Creole breeds in America but never in Ar- gentine. The Y chromosome of the sampled bulls had the typical sub-metacentric structure normally occurring in Bos taurus. It is suggested that programmes for genetic and reproductive improvement incorporate chromosomal analysis of bulls and cows with a high genetic value for natural and artifi- cial breeding. Individuals with chromosomal abnormalities could then be eliminated, helping to as- sure the high fertility rates of this breed.

Differential staining methods found extensive use in karyotype studies of many plant and animal species and provide for reliable identification of all chromosomes of the organism. Below we describe the most widespread methods and history of their advent. In addition, we discuss specific structure of the chromosomes and possible mechanisms responsible for differential segmentation.

One hundred children with suspected congenital and/or malformation and their parents who reported to SAT hospital, Medical College, Trivandrum, India formed the test group. Fifty children with no obvious anomalies or abnormalities and their parents formed the control group. The criteria for selection of the control was (1) the maternal age at delivery was below 30 years and (2) the parents belong to first or second birth order. The chromosomal analysis was carried out in all the subjects using peripheral blood lymphocyte microculture to investigate any constitutional chromosomal markers and quantitate the mutagen (bleomycin) sensitivity of the chromosomes. All the subjects were evaluated clinically and a complete family history was recorded. Chromosome anomalies were noted in 41 out of 100 children and in 4 out of 200 parents of the test group. No constitutional aberrations were seen either in the parents or in the children of the control group. Bleomycin sensitivity study revealed a high b/c value in 35 children (24 hypersensitive and 11 sensitive) of the test group whereas in the control group the b/c values were low denoting hyposensitivity and very good DNA repair mechanism. This study reveals that the incidence of chromosome aberrations is higher when the age and birth order of parents are higher. A direct correlation was noted with parental order and b/c value. This was also true with the parental age and birth defects.

Summary Aim/background The main objective of this study was to evaluate the cause of reproductive failures in couples by clinical and cytogenetic analysis. Couples with history of recurrent pregnancy losses (RPL) were referred to our cytogenetic laboratory for chromosomal evaluation. Methods Chromosomal analysis from lymphocyte culture of the phenotypically normal couples were done to evaluate the role of chromosomal abnormalities in Recurrent spontaneous abortion (RSA) and to offer appropriate genetic counseling to them. Results Clinical and hormonal profile of the couples revealed normal phenotypes. Chromosomal analysis of the couples showed karyotypes like 45,XX,der(13;14)(q10;q10), 46,XX,t(1;17)(p36.2;p13.1), 46,XX,t(9;16)(p24.2;q12.2), 46,XX,t(1;18)(q42.1;q21.2), 46,XY,inv(9)(p11.2q13.3), 46,XY,inv(Y)(p11.2q11.223), 46,XX,inv(14)(q23.2q32.1), 46,XY,(16qh+), 46,XY,t(4;18)(q13.1;q23.0), 46,XX,t(12;14)(q24.1;q32.2), inv(11)(q23.2q24.3). Conclusion Among the cases mentioned in this study four translocation cases and inversion and translocation within single individual were not previously reported in any other literature. Novel balanced reciprocal translocations (BRT) were reported as original investigation in four individuals and single case of translocation and inversion within same individual in new break-points. The study showed chromosomal anomalies like balanced translocation, inversion and duplication causing recurrent pregnancy losses from different unrelated families and there was no history of consanguineous marriage in any of them.

Morphological variations due to heterochromatic DNA of the secondary constriction re¬gion (qh) of human chromosome 1 are considered normal. The presence of a G-negative band within the qh region of chromosome 1 has been considered as a rare or unusual variant. The aim of the present study was investigated the role of G-negative band that embedded within the secondary constriction region of chromosome 1 in two cases. Both cases were unrelated and two different family. First family history was three postna¬tal loses-one stillborn and second family had three recurrent abortions. There were no risk factors for fetal losses. Clinical assessment and cytogenetic studies were evaluated. Chromosomal analysis was performed with conventional methods from lymphocytes and karyotyped using G and C banding techniques. Male in the first family (case I) was 46,XY,1qh G-negative band in all metaphases and his wife was normal 46, XX chromo¬some structure. Female in the second family (case II) was 46,XX,1qh G-negative band and her husband was normal 46, XY chromosome. Both cases were phenotypicaly nor¬mal and they have one healthy child. We presented that those families for interesting although clinical consequences of heterochromatic variants remain obscure. Our study is important by virtue a rare study to investigate relationship between fetal loses and G-negative band in chromosome1qh. J. Exp. Clin. Med., 2011; 28:117-119

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A criticality accident occurred on September 30, 1999, at the uranium conversion plant in Tokai-mura (Tokai-village), Ibaraki Prefecture, Japan. When the criticality occurred, three workers saw a "blue-white glow," and a radiation monitor alarm was sounded. They were severely exposed to neutron and gamma-ray irradiation, and subsequently developed acute radiation syndrome (ARS). One worker reported vomiting within minutes and loss of consciousness for 10-20 seconds. This worker also had diarrhea an hour after the exposure. The other worker started to vomit almost an hour after the exposure. The three workers, including their supervisor, who had no symptoms at the time, were brought to the National Mito Hospital by ambulance. Because of the detection of gamma-rays from their body surface by preliminary surveys and decreased numbers of lymphocytes in peripheral blood, they were transferred to the National Institute of Radiological Sciences (NIRS), which has been designated as a hospital responsible for radiation emergencies. Dose estimations for the three workers were performed by prodromal symptoms, serial changes of lymphocyte numbers, chromosomal analysis, and 24Na activity. The results obtained from these methods were fairly consistent. Most of the data, such as the dose rate of radiation, its distribution, and the quality needed to evaluate the average dose, were not available when the decision for hematopoitic stem cell transplantation had to be made. Therefore, prodromal symptoms may be important in making decisions for therapeutic strategies, such as stem-cell transplantation in heavily exposed victims.

Summary Before chromosomal analysis became available, the diagnosis of Turner's syndrome was based on the characteristics independently described by Otto Ullrich and Henry Turner, such as short stature, gonadal dysgenesis, typical, visible dysmorphic stigmata, and abnormalities in organs, which present in individuals with a female phenotype. Today, Turner's syndrome or Ullrich-Turner's syndrome may be defined as the combination of characteristic physical features and complete or part absence of one of the X chromosomes, frequently accompanied by cell-line mosaicism. The increasing interest in Turner's syndrome over the past two decades has been motivated both by the quest for a model by which the multi-faceted features of this disorder can be understood, and the endeavour to provide life-long support to the patient. New developments in research allow patients with Turner's syndrome to have multidisciplinary care.

Chromosomal analysis was performed in fine needle aspiration samples of 98 primary Ewing tumors (ETs) prior to treatment. Among the 58 (59.18%) successful cultures, t(11;22)(q24;q12) was observed in 87.9% and 6.8% had abnormalities other than t(11;22), viz., del(22)(q12), der(16)t(1;16)(q12;q11), and variant t(8;22)(q24;q12). Involvement of breakpoints 1q21, 1q22, 3p14, 16q22, and 17p13 was also observed. Numerical abnormalities such as trisomies 8 and 12 were found in 29.3% and 20.6% and trisomy 18 in 17.2%. An attempt was made to evaluate the role of these additional changes in the process of tumor development, metastasis, and progression of the disease. This is the largest cytogenetic study on ET from a single center using a simple and reliable technique of fine-needle aspiration culture. The literature on cytogenetics of ET is reviewed.

Diffuse large B-cell lymphoma (DLBL) is characterized by a marked degree of morphologic and clinical heterogeneity. We studied 137 patients with de novo DLBL for rearrangements of the bcl-1, bcl-2, bcl-6 and c-myc oncogenes by Southern blot analysis. Structural alterations of bcl-1, bcl-2, bcl-6, and c-myc were detected in 21 of 137 (15.3%), 8 of 137 (5.8%), 22 of 137 (16.1%), 14 of 137 (10.2%) patients, respectively. Two cases showed a combination of bcl-1 and bcl-6 rearrangements. Chromosomal analysis was performed in 31 cases of the 137 DLBL. 27 of these showed karyotypic abnormalities, and two had translocations 3q27 involving bcl-6. However, one of two cases had no rearrangement of bcl-6. Patients with rearranged bcl-6 and c-myc tended to have poorer survival than patients with germ-line. Furthermore, bcl-1 and bcl-2 rearrangements tended to have a better outcome, although the above differences were not statistically significant. Rearrangements of the bcl-1, 2, 6, and c-myc gene correlated with the clinical outcome in DLBL and may thus serve as prognostic markers in patients with this form of malignant lymphoma. However, other genetic factors are probably involved in determining prognosis.

Chromosomal analysis was accomplished in bovine embryos derived from in vitro fertilization (IVF) after insufficient in vitro maturation of oocytes. Bovine oocytes collected from different donors were pooled into two groups; oocytes matured in vitro for 12 hrs were classified as the 12-hr group (insufficient maturation group), and other oocytes matured in vitro for 26 hrs were classified as the 26-hr group. At forty-eight hrs after IVF, most of the embryos (185/223, 83%) in the 26-hr group developed into the 8- or 16-cell stages, while many embryos (125/165, 75.8%) in the 12-hr group were at the 2- or 4-cell stage. The incidence of chromosomally abnormal embryos in the 12-hr group, 66.7% (54/81), was significantly higher than that in the 26-hr group, 27.8% (20/72). These chromosomal anomalies were haploids, polyploids and mixoploids. It was presumed that the increase in these anomalies was caused by sperm penetration with dysfunction of zonae pellucida and/or membrane of the ooplasm of immature oocytes.

We report the case of a premature neonate with ascites and dysmorphic facial features at birth. The chromosomal analysis showed an interstitial deletion of chromosome 10, that is, 46, XX, del(10)(q22.3q24.1). This is the first known case of a patient with interstitial deletion of chromosome 10 with symptoms of ascites and hydrops.

A series of experiments were designed to evaluate the meiotic competence of mouse oocyte germinal vesicle (GV) in rabbit ooplasm. In experiment 1, an isolated mouse GV was transferred into rabbit GV-stage cytoplast by electrofusion. It was shown that 71.8% and 63.3% of the reconstructed oocytes completed the first meiosis as indicated by the first polar body (PB1) emission when cultured in M199 and M199 + PMSG, respectively. Chromosomal analysis showed that 75% of matured oocytes contained the normal 20 mouse chromosomes. When mouse spermatozoa were microinjected into the cytoplasm of oocytes matured in M199 + PMSG and M199, as many as 59.4% and 48% finished the second meiosis as revealed by the second polar body (PB2) emission and a few fertilized eggs developed to the eight-cell stage. In experiment 2, a mouse GV was transferred into rabbit MII-stage cytoplast. Only 13.0–14.3% of the reconstructed oocytes underwent germinal vesicle breakdown (GVBD) and none proceeded past the MI stage. When two mouse GVs were transferred into an enucleated rabbit oocyte, only 8.7% went through GVBD. In experiment 3, a whole zona-free mouse GV oocyte was fused with a rabbit MII cytoplast. The GVBD rates were increased to 51.2% and 49.4% when cultured in M199 + PMSG and M199, respectively, but none reached the MII stage. In experiment 4, a mouse GV was transferred into a partial cytoplasm-removed rabbit MII oocyte in which the second meiotic apparatus was still present. GVBD occurred in nearly all the reconstructed oocytes when one or two GVs were transferred and two or three metaphase plates were observed in ooplasm after culturing in M199 + PMSG for 8 hr. These data suggest that cytoplasmic factors regulating the progression of the first and the second meioses are not species-specific in mammalian oocytes and that these factors are located in the meiotic apparatus and/or its surrounding cytoplasm at MII stage. J. Exp. Zool. 289:322–329, 2001. © 2001 Wiley-Liss, Inc.

This study reports a comparative analysis between results of transabdominal coelocentesis and traditional invasive procedure in order to assess the usefulness of coelocentesis as a source of fetal DNA for molecular and chromosomal analysis. A number of 28 women were included in the study. A successful sampling of coelomic fluid was obtained in 25 women by transabdominal procedure. A positive amplification of DNA with QF-PCR techniques was obtained in 90% of cases, while 10% of cases failed to reveal interpretable results. Although all samples were cultured, the growth rate was not sufficient to determine karyotypes within 2 weeks. Five samples were selected to be analyzed by array-based comparative genomic hybridization (a-CGH) but the interpretation of these results was difficult and ambiguous. Our results suggest that transabdominal coelocentesis is suitable for the detection of single DNA variation and for QF-PCR analysis, while further experiments are needed to develop optimized protocols for traditional karyotyping and array-analysis.

Neohydrocoptus jaechi (Wewalka) is recorded for the first time in Egypt. It is very similar to N. angolensis (Peschet), but there are aedeagal differences. The karyotype consists of 6 pairs of autosomes and sex chromosomes which are neo-XY (♂) and neo-XX (♀). C-banding shows that the sex chromosomes of Canthydrus diophthalmus (Reiche & Saulcy) are not the small pair suggested by Bilton (1992), but are one of the largest pairs, with the Y-chromosome totally heterochromatic. The implications of these findings are considered in the light of Belkaceme's (1991) work on the phylogeny of Noteridae. Neohydrocoptus is placed among the group of more primitive genera, outside the closely-knit group of higher Noteridae, while Canthydrus is placed right at the top of the higher Noteridae. The neo-XY sex chromosomes of Neohydrocoptus could be a primitive condition for the family, while the system found in Canthydrus is derivable from that of Synchortus Sharp (Saleh Ahmed et al., 1997) (one of Belkaceme's basal genera o...

Despite the interest of several authors, the karyotype of the labrid C. julis is still debated and in particular the presence of sex-chromosomes is still contradictory. In order to analyze the karyotype organization of C. julis we have performed an analysis with classical and molecular cytogenetic techniques. Our results after silver-, CMA3- and DAPI-staining, C-banding and fluorescent in situ hybridization (FISH) using 28S rDNA, 5S rDNA, and telomeric repeat (TTAGGG)n as probes allowed us to characterize the chromosomal location of several repetitive DNAs of C. julis. Finally, regardless of the technique used, no difference in the chromosome complement was found between males and females.

Purpose : To seek the delayed appearance of chromosomal abnormalities in human fibroblasts exposed to the Auger electron emitter 125 I. Materials and methods : Normal untransformed human fibroblasts, HF19, were exposed to a concentration of [I 125 ]IUdR, which allowed the survival of 37% of clonogens. Chromosomal analysis using both conventional Giemsa and fluorescence in situ hybridization (FISH) was undertaken on non-clonal bulk cultures from 2 to 39 days after treatment. Results : The data show a declining level of unstable aberrations in the progeny of HF19 fibroblasts exposed to [I 125 ]IUdR, eventually reaching control levels. Conclusions : The results provide evidence that [ 125 I]IUdR does not induce ongoing chromosomal instability in long-term culture, and gives further support to the use of Auger-electron emitting radionuclides in the treatment and diagnosis of tumours.

We report a case of a patient who presented with anterior mediastinal mass, seizure disorder, and mental retardation. Computerized tomography-guided fine-needle aspiration biopsy of the mass showed nonseminomatous germ cell tumor. Chromosomal analysis showed XXY karyotype. A diagnosis of Klinefelter syndrome and mediastinal germ cell tumor was made.

Background. The most common neoplasm of the parotid gland is the pleomorphic adenoma. The familial occurrence of such tumors arising within the parotid gland is rare, with only 3 previous reports in the literature. Bilateral synchronous pleomorphic adenomas of the parotid gland are also uncommon. We report 2 siblings with pleomorphic adenomas of the parotid gland, 1 of whom had bilateral synchronous mixed tumors. Patients and Methods. Chromosomal analysis of tumor cells from the sibling with bilateral adenomas revealed the translocation t(3;12)(p21;q15). Chromosome 12q breakpoints have previously been identified in a wide variety of solid tumors including pleomorphic adenomas of the parotid gland. Conclusions. We discuss bilateral mixed tumors, familial parotid tumors, and the potential for a genetic predisposition for the recurrence of such parotid tumors, as suggested by characteristic chromosomal translocations associated with mixed tumors.