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具有正常表型个体中的一种家族性超小型标记常染色体。

A familial extra small marker autosome in persons with normal phenotype.

作者信息

Fried K, Rosenblatt M

出版信息

Hum Hered. 1979;29(6):371-3. doi: 10.1159/000153075.

Abstract

The propositus was referred because of sterility and oligospermia. His karyotype was 45, XY, t(13q14q). His father was dead; his mother and the only brother, who was fertile, both had 47 chromosomes, but a normal phenotype and normal intelligence. The additional chromosome was three quarters the size of a G chromosome and had satellites on the short and long arms.

摘要

先证者因不育和少精子症前来就诊。其核型为45,XY,t(13q14q)。他的父亲已去世;他的母亲和唯一有生育能力的兄弟均有47条染色体,但表型正常且智力正常。额外的那条染色体大小约为G组染色体的四分之三,其短臂和长臂上均有随体。

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