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7号染色体间质性缺失:一例病例报告及文献复习

Interstitial deletion of chromosome 7: a case report and review of the literature.

作者信息

Gibson J, Ellis P M, Forsyth J S

出版信息

Clin Genet. 1982 Nov;22(5):256-65. doi: 10.1111/j.1399-0004.1982.tb01442.x.

Abstract

A de novo deletion 7q11 leads to q21.2 was identified in a newborn with genital and other minor clinical abnormalities and some degree of psychomotor retardation. A review of the literature revealed a number of cases of deletion 7q, which can be categorized into three groups according to their breakpoints. Attempts to correlate phenotype with genotype in these cases have been only moderately successful, and as yet only deletion 7q32 leads to qter can be associated with a definite clinical syndrome, although a tentative syndrome may be postulated in association with deletion of region 7q22 leads to 7q31.

摘要

在一名患有生殖器及其他轻微临床异常和一定程度精神运动发育迟缓的新生儿中,发现了一个从头发生的7q11至q21.2缺失。文献回顾显示有许多7q缺失的病例,根据其断点可分为三组。在这些病例中,试图将表型与基因型相关联的尝试仅取得了一定程度的成功,并且到目前为止,只有7q32至qter缺失可与一种明确的临床综合征相关联,尽管对于7q22至7q31区域缺失可能推测出一种暂定综合征。

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