X/XYq - mosaicism and mixed gonadal dysgenesis.
نویسندگان
چکیده
A non-fluorescent Y chromosome was observed in a phenotypic male with 45,X/46,XYq-mosaicism and mixed gonadal dysgenesis. Q-banding of the father's chromosomes showed a normally fluorescent Y. Measurements of the Y chromosomes in the father and the patient showed a significant difference in length. Evidence for translocation of the Y fluorescent segment to another chromosome was lacking in the present case.
منابع مشابه
Dicentric Y chromosome in mixed gonadal dysgenesis.
A 15-year-old girl was investigated because of ambiguous genitalia. Her chromosome studies showed a 45, X/45, Xdic(Yq) mosaicism. The identity of the dicentric Y chromosome was demonstrated by its typical fluorescent banding patterns. Histological evidence of mixed gonadal dysgenesis with intragonadal tumour was observed, confirming the occurrence of gonadoblastoma associated with mosaicism in ...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 14 4 شماره
صفحات -
تاریخ انتشار 1977