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由于7号染色体间质性缺失(7q22至7q32)导致的猫叫综合征和智力发育迟缓。

Cat-like cry and mental retardation owing to 7q interstitial deletion (7q22 leads to 7q32).

作者信息

Abuelo D N, Padre-Mendoza T

出版信息

J Med Genet. 1982 Dec;19(6):473-6. doi: 10.1136/jmg.19.6.473.

Abstract

A patient with mental retardation and mild facial dysmorphism had a karyotype which was considered to be normal before the availability of chromosomal banding techniques. She had a history of a cat-like cry and severe feeding problems during infancy. At the age of 9, she was still found to have initial aphonia on trying to initiate sounds. Repeat chromosome analysis with G banding showed an interstitial deletion of the long arm of chromosome 7.

摘要

一名患有智力障碍和轻度面部畸形的患者,在染色体显带技术出现之前,其核型被认为是正常的。她在婴儿期有猫叫样哭声和严重的喂养问题病史。9岁时,仍发现她试图发声时最初有失音现象。采用G显带进行的重复染色体分析显示7号染色体长臂存在中间缺失。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5254/1048969/c101957e0f94/jmedgene00116-0078-a.jpg

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