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在一个同胞家族中出现18号环状染色体、一个附加的双随体片段和21三体。

The occurrence of a ring 18, an accessory bisatellited fragment, and trisomy 21 within one sibship.

作者信息

Grace E, Sills J

出版信息

Hum Genet. 1978 Jul 12;43(1):111-4. doi: 10.1007/BF00396487.

Abstract

A family is presented in which there were three different chromosome abnormalities in the children although the parents were cytogenetically normal. The proband had the karyotype 46,XX, r(18) (p11q23), a phenotypically normal brother was 47,XY,+mar, and another brother was a typical case of Down's syndrome, karyotype 47,XY,+21. There is nothing in the parents' history that provides grounds for a hypothesis to explain the coincidence of the abnormalities.

摘要

有一个家庭,其父母的细胞遗传学检查正常,但子女却出现了三种不同的染色体异常。先证者的核型为46,XX,r(18)(p11q23),一个表型正常的兄弟核型为47,XY,+mar,另一个兄弟是典型的唐氏综合征患者,核型为47,XY,+21。父母的病史中没有任何依据可以用来解释这些异常情况为何会同时出现。

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