1/108. Sex chromosome pentasomy (49,XXXXY) presenting as cystic hygroma at 16 weeks' gestation.The pentasomy 49,XXXXY is one of the rarest sex chromosome defects, occurring with an estimated incidence of 1 in 85 000 male births. This condition is associated with pre- and postnatal growth deficiency, severe mental retardation, hypogenitalism, and other skeletal, facial and cardio-vascular anomalies. In this report we present such a case diagnosed prenatally by chorionic villus sampling after the ultrasound detection of cystic hygroma at 16 weeks' gestation. Although the prenatal diagnosis of cystic hygroma and its association with aneuploidy has been documented in numerous reports, sex chromosome aneuploidy, other than the 45,X karyotype, accounts for only 0.3 per cent of cases.- - - - - - - - - - ranking = 1keywords = chromosome (Clic here for more details about this article) |
2/108. True hermaphroditism: an analytic review with a report of 3 new cases.Three new cases of true hermaphroditism are described: a 14-year-old patient with a testis on one side and an ovotestis on the other side and a 11-year-old patient as well as a 6-year-old patient both with an ovary on the one side and an ovotestis on the other side. Twenty-four cases, which were personally investigated, were previously reported. Therefore, this analytic review is based upon the author's experience of 27 cases as well as 340 cases reported in the world literature since 1899. The presenting symptoms and age of diagnosis are discussed. Apart from ambiguous genitals, the development of breasts in a patient reared as male is an important presenting symptom. The variations found regarding the external and internal genitals are described. An ovotestis is the most common gonad found in true hermaphroditism. Among 116 ovotestes available for analysis, 46 per cent are located in an ovarian position, 26 per cent in the labioscrotal fold, 24 per cent in the inguinal canal, and 4 per cent in the internal inguinal ring. Evidence of ovulation is found in 50 per cent of ovotestes. spermatogenesis has not been observed in the testicular portion of an ovotestis. spermatogenesis was present in only 12 per cent of testes found in true hermaphroditism. Dysgerminomas occur with a frequency of 1.3 per cent. A fallopian tube and a vas deferens were never found together next to an ovotestis. Cytogenetic findings are reported in 115 cases of true hermaphroditism, including the cases described in this paper. A 46,XX chromosomal complement is the most common finding, occurring in 57.4 per cent of cases. It is interesting that 42.6 per cent showed no evidence of a y chromosome. With the use of the fluorescent technique in metaphase chromosomes as well as the Y chromatin body in interphase cells, no y chromosome was detected in the three new cases reported here. The various possibilities for the development of testicular tissues in the absence of a y chromosome are discussed. In the diagnosis of true hermaphroditism the palpation of an ovotestis with a soft testicular portion and a firm ovarian portion is stressed. As far as the treatment of true hermaphroditism is concerned, the external genitals should be changed according to the gender identity which usually correlates with the sex of rearing.- - - - - - - - - - ranking = 0.66666666666667keywords = chromosome (Clic here for more details about this article) |
3/108. Y-chromosomal genes in a phenotypic male with a 46XX karyotype.A number of patients with a male phenotype and a female (46XX) karyotype have been described. Although there is little or no evidence for the presence of a y chromosome in their cells, these individuals resemble patients with klinefelter syndrome (47XXY). Using a new serological assay for the presence of h-y antigen, a cell surface component associated with the y chromosome, we have demonstrated the presence of Y-chromosomal genes in a 46-year-old man with an XX karyotype. In addition, using standard cytological technique, we have located a minor population of XXY cells as well as cells bearing and abnormal chromosome 17 among the blood leukocytes of this individual.- - - - - - - - - - ranking = 0.5keywords = chromosome (Clic here for more details about this article) |
4/108. Estimates of sperm sex chromosome disomy and diploidy rates in a 47,XXY/46,XY mosaic Klinefelter patient.A 47,XXY/46,XY male was investigated for the incidence of aneuploidy in sperm sex chromosomes using a three-colour X/Y/18 fluorescence in situ hybridisation (FISH) protocol. A total of 1701 sperm nuclei were analysed. The ratio of X-bearing to Y-bearing sperm did not differ from the expected 1:1 ratio although there were more 23,Y sperm than 23,X sperm (844 vs 795). There was a significantly increased proportion of disomy XY and XX sperm compared with normal controls (0.41% vs 0.10%, P < 0.001 and 0.29% vs 0.04%, P < 0.01). However, the incidence of YY sperm was similar to the controls (0.06% vs 0.02%). The diploidy rate was also significantly increased (1.7% vs 0.13%, P < 0.0001), as was disomy 18 (0.71% vs 0.09%) and 25,XXY (0.47% vs 0%). The results support the hypothesis that some 47,XXY cells are able to undergo meiosis and produce mature spermatozoa. patients with mosaic klinefelter syndrome with severe oligozoospermia have significantly elevated incidences of disomy XY and XX sperm and may be at a slightly increased risk of producing 47,XXX and 47,XXY offspring. Additionally, they may be at risk of producing offspring with autosomal trisomies. Hence, patients with Klinefelter mosaicism scheduled for intracytoplasmic sperm injection intervention should first undergo FISH analysis of their sperm to determine their risk.- - - - - - - - - - ranking = 0.83333333333333keywords = chromosome (Clic here for more details about this article) |
5/108. The role of lipoaspiration in defeminization of klinefelter syndrome: a case report.klinefelter syndrome is the most frequent sex chromosome anomaly. Affected men characteristically present a tall stature, eunuchoid contours with feminine fat distribution, gynecomastia, hypogonadism, infertility, and behavioral and psychiatric disorders. Diagnosis is confirmed by karyotype, which demonstrates an extra X chromosome. Treatment is mainly directed toward appropriate defeminization. Current treatment consists of testosterone replacement therapy and surgical correction of gynecomastia.- - - - - - - - - - ranking = 0.33333333333333keywords = chromosome (Clic here for more details about this article) |
6/108. A variant klinefelter syndrome patient with an XXY/XX/XY karyotype studied by GTG-banding and fluorescence in situ hybridization.klinefelter syndrome is the first human sex chromosomal abnormality to be reported. The majority of klinefelter syndrome patients have the XXY karyotype. Approximately 15% of Klinefelter patients, however, are mosaics with variable phenotypes. Among the variant Klinefelter genotypes are such karyotypes as XY/XXY and XX/XXY. The variation in phenotypes most likely depends on the number of abnormal cells and their location in body tissues. In this paper we report the case of a 42-year-old patient with klinefelter syndrome and a rare variant mosaic XXY/XX karyotype initially identified by GTG-banding. This was confirmed by fluorescence in situ hybridization (FISH) using a dual-color X/Y probe. The patient presented with erectile dysfunction and few other physical findings. Thus, this case illustrates a rare variant of klinefelter syndrome with a relatively mild phenotype. It also illustrates the utility of FISH as an adjunct to conventional cytogenetics in assessing the chromosome copy number in each cell line of a mosaic. In our case, FISH also detected the presence of a small population of cells with the XY karyotype not previously detected in the initial 30-cell GTG-banding analysis. Thus, through a combination of GTG-banding and FISH, the patient was determined to be an XXY/XX/XY mosaic. Given that most individuals with klinefelter syndrome are infertile, and that these individuals may wish to reproduce with the aid of modern reproductive technology, such as testicular fine needle aspiration and intracytoplasmic sperm injection, it is important that accurate estimation of the frequency of abnormal cells be obtained for accurate risk estimation and genetic counseling, as recent studies in patients with mosaic klinefelter syndrome revealed that germ cells with sex chromosomal abnormalities were nevertheless capable of completing meiosis.- - - - - - - - - - ranking = 0.16666666666667keywords = chromosome (Clic here for more details about this article) |
7/108. fluorescence in-situ hybridization of sex chromosomes in spermatozoa and spare preimplantation embryos of a Klinefelter 46,XY/47,XXY male.It has been suggested recently that 47,XXY germ cells are able to progress through meiosis to produce hyperhaploid spermatozoa. We report on a 46,XY/47,XXY Klinefelter patient whose spermatozoa were recovered from the ejaculate and used for intracytoplasmic sperm injection (ICSI). fluorescence in-situ hybridization (FISH) analysis of the patient's spermatozoa and of spare preimplantation embryos with dna probes specific for chromosomes X, Y and 18 revealed sex chromosome hyperploidy in 3.9% of the sperm nuclei analysed (2.23% XY18, 1.12% XX18, 0.56% YY18), while only three out of 10 spare embryos analysed were normal for chromosomes tested. The abnormalities included two diploid mosaic embryos with the majority of the blastomeres normal for the chromosomes tested, and five embryos with mostly abnormal blastomeres and chaotic chromosome X, Y and 18 patterns. None of the embryos analysed showed a XXY1818 or XXX1818 chromosome complement. The frequency of sex chromosome hyperploidy in the spermatozoa of the mosaic Klinefelter patient was higher than the mean reported for karyotypically normal males, supporting the hypothesis that 47,XXY germ cells are able to complete meiosis and produce aneuploid spermatozoa. However, most of the spermatozoa analysed were normal for sex chromosomes, and ICSI of the patient's spermatozoa did not result in a spare embryo with a uniform 47,XXY or 47,XXX chromosome complement. Instead, fertilization produced a high percentage of mosaic embryos with chaotic chromosome arrangements.- - - - - - - - - - ranking = 2.3333333333333keywords = chromosome (Clic here for more details about this article) |
8/108. Assessment of sex chromosome aneuploidy in sperm nuclei from 47,XXY and 46,XY/47,XXY males: comparison with fertile and infertile males with normal karyotype.Sex chromosome aneuploidy was assessed in spermatozoa from a 47,XXY male and a 46,XY/47,XXY male using three colour fluorescence in-situ hybridization (FISH) and compared with two control groups. The first group included subjects of proven fertility and the second infertile males with normal constitutional karyotype. The frequencies of XX and YY disomic, XY hyperhaploid and diploid spermatozoa were significantly increased in the 47,XXY male compared to subjects from the two control groups (P < 0.0001). For the 46,XY/47,XXY sample, the same results were observed, except that the incidence of YY disomic spermatozoa did not differ significantly from the rate obtained in infertile patients. The frequency of sex chromosome aneuploidy did not differ significantly between the 47,XXY and the 46,XY/47,XXY males, except for XX disomic sperm nuclei which was higher in the 47,XXY patient. The frequency of chromosome 12 disomy was also increased in the two XXY individuals (0.42 and 0.49% respectively; P < 0.0001). The meiotic abnormalities observed in the two XXY patients arose through segregation errors in XY germ cells. The increased number of meiotic non-disjunctions observed in the germ cells of infertile males may be a common feature of the deficient oligo- or azoospermic testis. patients with Klinefelter's syndrome with oligozoospermia have an increased risk of both sex chromosome and autosome aneuploidy in their progeny.- - - - - - - - - - ranking = 1.3333333333333keywords = chromosome (Clic here for more details about this article) |
9/108. Patent ductus arteriosus and microdeletion 22q11 in a patient with klinefelter syndrome.We describe an uncommon association of deletion 22q11 in a patient with klinefelter syndrome. Even though congenital heart defects (CHD) are not associated with klinefelter syndrome, further investigation of this patient with patent ductus arteriosus showed a microdeletion of chromosome 22q11.2. While this finding may be coincidental, it is important to further evaluate patients when the clinical features are suggestive of a secondary abnormality.- - - - - - - - - - ranking = 0.16666666666667keywords = chromosome (Clic here for more details about this article) |
10/108. Acute cerebellar hemorrhage in a patient with klinefelter syndrome: XXY karyotype obtained postmortem from cells from pericardial fluid.A case of klinefelter syndrome and a spontaneous cerebellar hemorrhage in a 12-year-old boy is presented. autopsy revealed that the hemorrhage was due to the rupture of a dilated artery in an arteriovenous malformation in the right cerebellar hemisphere. The small, undescended testes exhibited partial atrophy of the seminiferous tubules. Postmortem chromosome analysis of cells from the pericardial fluid demonstrated a 47, XXY karyotype. He had previous surgical treatment for bilateral thumb polydactyly and patent ductus arteriosus. In juvenile cases of sudden death with overlapping morphological dysgenesis, postmortem karyotyping may provide important diagnostic information.- - - - - - - - - - ranking = 0.16666666666667keywords = chromosome (Clic here for more details about this article) |
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