11/23. Germ cell tumor showing partial trisomy 1 in a gonadectomized intersex child with monosomy X and double Y mosaicism.High incidence of germ cell tumors arising from dysgenetic gonads in patients with sexual chromosome abnormalities has been described, especially in patients with a y chromosome bearing cell line. Here we report a 14-year-old patient with ambiguous genitalia. Constitutional karyotype showed 45,X/46,X,derY [?t(Yp;Yq)] mosaicism. The patient developed an abdominally located mixed malignant germ cell tumor 5 years after the removal of the dysgenetic gonads. Tumor karyotype showed partial trisomy 1q, a derivative 8q, and a hyperdiploidy with X, 7, 12, 15, 19, 21, and an unidentified marker.- - - - - - - - - - ranking = 1keywords = chromosome (Clic here for more details about this article) |
12/23. A t(Y;15) translocation with a deletion of the proximal Yq in a boy with mixed gonadal dysgenesis.A Japanese boy with genital malformation and mixed gonadal dysgenesis is described. The karyotype appeared to be 46,X t(15;Y)(p13;q11). A comparison of the Q-positive segment on der(15) with that of the paternal y chromosome revealed, however, the loss of over half of the Q-positive segment from the paternal Y during t(15;Y) translocation. The father had an unusually long y chromosome that corresponded to a chromosome 18. dna analysis further revealed a deletion of the non-fluorescent part of the long arm of the y chromosome spanning interval 5-6.- - - - - - - - - - ranking = 2keywords = chromosome (Clic here for more details about this article) |
13/23. Dicentric y chromosome and mixed dysgenesis.We report 4 cases of mixed gonadal dysgenesis with a karyotype containing a dicentric y chromosome. All cases were mosaic with 45X and 46X, dic(Y) cell lines. Of the patients 1 had ambiguous genitalia and some features of Turner's syndrome, 2 had classical features of Turner's syndrome with normal female external genitalia and 1 had no features of Turner's syndrome but he presented with penoscrotal hypospadias, inguinal hernia and cryptorchidism. female gender assignment and early total gonadectomy should be considered when a dicentric y chromosome is present in cases of mixed gonadal dysgenesis.- - - - - - - - - - ranking = 3keywords = chromosome (Clic here for more details about this article) |
14/23. Juvenile granulosa cell tumor--another neoplasm associated with abnormal chromosomes and ambiguous genitalia. A report of three cases.Three infants, 3 months of age or younger with abnormal karyotypes and ambiguous genitalia, had gonadal juvenile granulosa cell tumors. Two of the patients had mixed gonadal dysgenesis and the third had an intersexual disorder of undetermined type. Two tumors arose in undescended testes, and the third in an undescended gonad of uncertain nature. The occurrence of this uncommon neoplasm in these infants indicates that it is another type of neoplasm that may develop in the gonad of a patient with an abnormal karyotype and ambiguous genitalia.- - - - - - - - - - ranking = 2keywords = chromosome (Clic here for more details about this article) |
15/23. h-y antigen expression in a case of mixed gonadal dysgenesis.h-y antigen expression was studied on leukocytes and gonad-derived fibroblasts from a patient affected by mixed gonadal dysgenesis. Blood leukocytes and fibroblasts derived from the testis were typed H-Y positive, but the fibroblasts derived from the streak gonad were H-Y negative. Although the patient's karyotype was a mosaic, 45,XO/46,X mar, as detected in-peripheral blood cells and testis-derived fibroblasts, all the fibroblasts derived from the streak gonad were 45,XO. These data suggests that the marker chromosome was in fact a Y-derived chromosome. Moreover, they showed that, at the gonadal level, a minority of H-Y positive 46,X mar cells were able to organize a testis. Nevertheless, a large number of XO cells probably did not receive the testicular forming influence of the h-y antigen and of the other masculinizing factors.- - - - - - - - - - ranking = 1keywords = chromosome (Clic here for more details about this article) |
16/23. Mixed gonadal dysgenesis and sex chromosome mosaicism with multiple cell lines including structural aberrations of the y chromosome.A case of mixed (asymmetric) gonadal dysgenesis is reported in a girl with ambiguous external genitalia, a right intra-abdominal testis, a left streak gonad containing follicle-like structures devoid of oocytes and bilateral Mullerian derivatives. Buccal smear cells were X-chromatin negative and a Y-chromatin body was present in 31% of cells. Cytogenetic studies in peripheral blood leucocyte cultures showed sex chromosome mosaicism with cell lines including structural abnormalities of the y chromosome in 36% of the cells: 45,X/46,XY/46,X i(Yp)/46,X, Yq-/47,XYY/47,XY Yq-.- - - - - - - - - - ranking = 5keywords = chromosome (Clic here for more details about this article) |
17/23. 45,X/46,XY chromosome mosaicism detected by midtrimester amniocentesis in amniocyte clones.Amniocyte clones from a mild-trimester pregnancy disclosed 45,X/46,XY sex chromosome mosaicism. Because of the uncertainty concerning the phenotype of the fetus, the parents elected to terminate the pregnancy. Mixed (asymmetrical) gonadal dysgenesis was not found. The fetus appeared to have a normal male uro-genital system. No malformations of any type were detected, although as expected, the fetus did have 45,X/46,XY mosaicism.- - - - - - - - - - ranking = 2.5keywords = chromosome (Clic here for more details about this article) |
18/23. Structural abnormalities of the y chromosome and abnormal external genitals.Three infants with different types of Y-chromosome anomalies, including short- and/or long-arm deletion and mosaicism, are reported. The karyotypes of these patients were: 45,X/46, X,del(Y)/47,X,del(Y), del(Y) on peripheral lymphocytes and 45,X/46,2, del(Y) on gonadal tissue (case 1), 45,X/46X,del(Y) (case 2), and 45,X/46X,r(Y) (case 3). In case 1 the euchromatic segment on the deleted Y was distinctly larger than that of the father's Y. The three infants had no gross phenotypic anomalies except ambiguous genitals and low birth weight, and they were small for date. The histologic diagnosis in two of them was mixed gonodal dysgenesis (cases 1 and 2). The relationship between structural abnormalities of the y chromosome and ambiguous genitals as well as male-determining factors is discussed.- - - - - - - - - - ranking = 3keywords = chromosome (Clic here for more details about this article) |
19/23. Cytological evidence for the location of male-determining and H-Y genes on the short arm of y chromosome.Chromosome analysis was performed in a case of mixed gonadal dysgenesis (MGD) with histological demonstration of both testicular structures and Mullerian derivatives. mosaicism 45,X0/46, X plus a centric fragment was observed. C-, Q- and R-banding techniques show that the fragment has a terminal centromere and that it is derived from the short arm of the y chromosome from the father. h-y antigen was also shown to be present in cultured cells. These data demonstrate that both male-determining and H-Y genes are located on the short arm of the Y.- - - - - - - - - - ranking = 2.5keywords = chromosome (Clic here for more details about this article) |
20/23. Mixed gonadal dysgenesis and cell line differentiation. Case presentation and literature review.A male patient with mixed gonadal dysgenesis, involving a streak gonad on the right and a histologically normal testis in the left, was found to have a 45,X/46,X,dic(Yp) chromosome constitution on peripheral blood cultures. fibroblasts grown from both gonads showed the "normal" testicular tissue to have e 45,X/46,X,dic(Yp), whereas the cells from the streak gonad were all 45,X. The structure of the dic(Yp) chromosome was confirmed using non-isotopic in situ hybridization with Y centromere and Yp specific probes. On hormonal stimulation, testosterone levels rose by 50%. The "normal" testis was left in situ, but close follow up will be required in view of the malignant potential.- - - - - - - - - - ranking = 1keywords = chromosome (Clic here for more details about this article) |
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