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2例11号染色体长臂(q23.2-qter)三体伴相同外生殖器异常

[2 cases of trisomy 11q(q23.2-- qter) with the same abnormality of external genitalia].

作者信息

Laurent C, Biemont M C, Bethenod M, Cret L, David M

出版信息

Ann Genet. 1975 Sep;18(3):179-84.

PMID:1080980
Abstract

Two unrelated individuals are reported with the same clinical picture and trisomic for the same segment of chromosome 11 (q23 leads to qter). That both were seen because of micropenis raises the possibility that genes interfering with the reproductive function are located on chromosome 11 and that the q23 band might be a preferential breakage point of chromosome 11. Certain earlier reports support such a possibility.

摘要

据报道,两名无血缘关系的个体临床表现相同,且11号染色体的同一段(q23至qter)三体异常。两人均因小阴茎前来就诊,这增加了干扰生殖功能的基因位于11号染色体上的可能性,并且q23带可能是11号染色体的一个优先断裂点。某些早期报告支持这种可能性。

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