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7q缺失综合征(7q32至7q末端)。

7q deletion syndrome (7q32 leads to 7qter).

作者信息

Harris E L, Wappner R S, Palmer C G, Hall B, Dinno N, Seashore M R, Breg W R

出版信息

Clin Genet. 1977 Oct;12(4):233-8.

PMID:912940
Abstract

Four independently ascertained children who presented with unusual facies and delayed mental and physical development were found to have a similar deletion of part of the long arm of chromosome 7 (46,XX or XY, del(7)(q32); 46,XX or XY,del(7)(pter leads to q32:)). Comparison of the findings of these four cases with one other case report of a similar deletion revealed similar dysmorphologic features in all five cases.

摘要

发现4名独立确诊的儿童,他们面容异常,智力和身体发育迟缓,均存在7号染色体长臂部分的类似缺失(46,XX或XY,del(7)(q32); 46,XX或XY,del(7)(pter→q32))。将这4例病例的发现与另一例类似缺失的病例报告进行比较,发现所有5例病例均有相似的畸形特征。

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