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一名患有14号染色体三次部分三体综合征的重度智障18岁男孩。

A severely retarded 18-year-old boy with tertiary partial trisomy 14.

作者信息

Smith A, den Dulk G, Elliott G

出版信息

J Med Genet. 1980 Jun;17(3):230-2. doi: 10.1136/jmg.17.3.230.

Abstract

An 18-year-old severely mentally and physically retarded boy was found to have an unbalanced chromosome complement 47,XY, + 14q-. He had the characteristic facial dysmorphis, abnormal hands, and other features described previously in cases of partial trisomy 14, but appears to be the oldest case reported. His mother is a reciprocal translocation carrier, and lack of other carriers in the family is noteworthy.

摘要

一名18岁的严重智力和身体发育迟缓男孩被发现染色体组成为47,XY, + 14q-,呈不平衡状态。他具有典型的面部畸形、手部异常以及先前在部分14号染色体三体病例中所描述的其他特征,但似乎是报告中年龄最大的病例。他的母亲是一名相互易位携带者,且家族中没有其他携带者,这一点值得注意。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ae2d/1048554/b8571c505966/jmedgene00125-0071-a.jpg

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