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[一例与婴儿痉挛症相关的15号染色体四体综合征病例]

[A case of 15p tetrasomy associated with infantile spasms].

作者信息

Kobayashi A, Ito M, Okada M, Yoshioka K

机构信息

Department of Pediatrics, Shimane Medical University.

出版信息

No To Hattatsu. 1994 Jan;26(1):74-7.

PMID:8280452
Abstract

A seven-year-old boy with a 15p tetrasomy: [47, XY, + inv dup (15) (pter-->q13: :q13-->pter)] was reported. The clinical manifestation were as follows; infantile spasms, delayed development and slightly brownish coloured skin. But there were no other abnormal findings in neurological or physical examinations. This was the first case with 15p tetrasomy and infantile spasms.

摘要

报告了一名患有15号染色体四体重复[47, XY, + inv dup (15) (pter→q13::q13→pter)]的七岁男孩。临床表现如下:婴儿痉挛症、发育迟缓以及皮肤略带褐色。但神经学或体格检查中未发现其他异常。这是首例患有15号染色体四体重复和婴儿痉挛症的病例。

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