Duplication of distal 17q from a maternal translocation: an additional case with some unique features.
نویسندگان
چکیده
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 duplication shows several unique features in our case.
منابع مشابه
Partial Distal 10q Trisomy Due to De Novo Amplification: A new Case Without Furrows or Ridges in Fingers and Palms
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عنوان ژورنال:
- Journal of medical genetics
دوره 26 9 شماره
صفحات -
تاریخ انتشار 1989