Sibs lacking characteristic features of duplication of distal 17q.
نویسندگان
چکیده
Two brothers with karyotype 46,XY,-16,+der(16),t(16;17)(q24.3;q25.1)pat are presented. It is commonly thought that duplication of distal 17q results in a clinically recognisable syndrome. Although our cases had several features often seen in patients with autosomal chromosome aberrations, they did not have any of the specific features found in other patients with this duplication.
منابع مشابه
Duplication of distal 17q from a maternal translocation: an additional case with some unique features.
A female with multiple dysmorphic features was found to have an unbalanced karyotype with duplication of the distal long arm of chromosome 17 and deletion of the terminal region of the short arm of chromosome 12. This was derived from a reciprocal translocation in the mother, 46,XX,t(12;17)(p13.3;q23). Clinical findings are presented and comparison with other reported cases of distal 17q duplic...
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عنوان ژورنال:
- Journal of medical genetics
دوره 26 7 شماره
صفحات -
تاریخ انتشار 1989