X chromosome replication patterns in a case of X;9 balanced translocation.
نویسندگان
چکیده
A case of X;9 balanced translocation in a female with amenorrhoea is reported. The X breakpoint was at Xq21, inside the 'critical region'. The normal X was consistently late replicating in blood lymphocytes and skin and ovary fibroblasts.
منابع مشابه
Balanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea
AbstractChromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. Although X-autosome translocations are frequently associated with streak gonads and clinical features of the Turner syndrome, the majority of X-autosome carriers may present with a variable phenotype, developmental delay, and recognizable X-linked syndrome ...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 20 6 شماره
صفحات -
تاریخ انتشار 1983