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唐氏综合征与G组染色体短臂缺失

Down's syndrome and deletion of short arms of a G chromosome.

作者信息

Ballantyne G H, Parslow M I, Veale A M, Pullon D H

出版信息

J Med Genet. 1977 Apr;14(2):147-50. doi: 10.1136/jmg.14.2.147.

Abstract

A woman in a family in which a G group chromosome (No. 21) with deleted short arms (21p-) is present has passed this chromosome to an intellectually deficient son, a normal son, and a daughter with Down's syndrome. Another daughter is chromosomally and phenotypically normal. As in other reports that focus on a concurrence of Gp- chromosomes and Down's anomaly, the possibility is considered that this chromosomal variant may predispose to developmental abnormalities or to non-disjunction, or both.

摘要

在一个家庭中,一名女性带有一条短臂缺失(21p-)的G组染色体(21号染色体),她将这条染色体遗传给了一个智力缺陷的儿子、一个正常儿子以及一个患有唐氏综合征的女儿。另一个女儿染色体和表型均正常。如同其他关注Gp-染色体与唐氏异常并发情况的报告一样,人们认为这种染色体变异可能易导致发育异常或不分离现象,或者两者皆有。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/db02/1013537/20bb8fb5522a/jmedgene00303-0068-a.jpg

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