Structural aberration of the X chromosome in a patient with gonadal dysgenesis: an approach to karyotype-phenotype correlation.
نویسندگان
چکیده
An 18-year-old female with some stigmata of pure dysgenesis had a chromosome constitution of 46,X,dir dup(X) (pter leads to q27: :q21 leads to qter). The abnormal chromosome was always late replicating. The clinical and cytogenetic picture is compared with that of patients with X;X translocation and some problems of karyotype-phenotype correlation are discussed.
منابع مشابه
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 18 3 شماره
صفحات -
تاریخ انتشار 1981