Gonadal dysgenesis in a patient with an X;3 translocation: case report and review.
نویسندگان
چکیده
A patient with primary amenorrhoea and absence of secondary sex characteristics was found to have a balanced X;3 translocation. This phenotype is reported in approximately one-third of the balanced X;autosome translocation cases. The normal X chromosome is inactive in the present case which is in agreement with most of the similar cases. A review of the 66 balanced X;autosome translocations reported to date is presented.
منابع مشابه
Balanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 17 3 شماره
صفحات -
تاریخ انتشار 1980