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13号染色体长臂部分缺失。

Partial deletion of the long arm of chromosome no. 13.

作者信息

Cuschieri A, Agius P V, Scheres J M

出版信息

Hum Genet. 1977 May 10;36(3):341-4. doi: 10.1007/BF00446286.

Abstract

A case of partial deletion of chromosome No. 13 identified by G banding as 46, XX, del(13)(q21--ater) is reported in an infant with severe microcephaly, microphthalmos, talipes calcaneovalus, and a single crease on each of the little fingers. A review of other cases of chromosome No. 13 deletion that were identified by banding is presented and the correlation between clinical features and deletion of specific bands is discusses.

摘要

报告了一例经G显带鉴定为46, XX, del(13)(q21--ater)的13号染色体部分缺失病例,该病例为一名患有严重小头畸形、小眼畸形、跟腱足畸形且每个小手指均有单一褶皱的婴儿。本文回顾了其他经显带鉴定的13号染色体缺失病例,并讨论了临床特征与特定条带缺失之间的相关性。

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