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正常表型及21号染色体G阳性区域部分三体性

Normal phenotype and partial trisomy for the G positive region of chromosome 21.

作者信息

Daniel A

出版信息

J Med Genet. 1979 Jun;16(3):227-9. doi: 10.1136/jmg.16.3.227.

Abstract

A prenatally diagnosed male fetus and his mother, who was referred because of her advanced age, both carried an abnormal bisatellited chromosome 21 as an extra chromosome. The abnormal 21 was monocentric and the G negative band q22 and part of q21 had been deleted during formation. The phenotype of both the mother and child (at birth) was normal.

摘要

一名产前诊断为男性的胎儿及其因高龄转诊的母亲,均携带一条异常的双随体21号染色体作为额外染色体。这条异常的21号染色体是单中心的,在形成过程中G阴性带q22和q21的一部分已缺失。母亲和孩子(出生时)的表型均正常。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/704f/1012698/3173244e554e/jmedgene00292-0064-a.jpg

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