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由环状7号染色体引起的环状综合征,无亚端粒序列缺失。

Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences.

作者信息

Vermeesch J R, Baten E, Fryns J-P, Devriendt K

机构信息

Center for Human Genetics, University of Leuven, Belgium.

出版信息

Clin Genet. 2002 Nov;62(5):415-7. doi: 10.1034/j.1399-0004.2002.620511.x.

Abstract

Ring chromosome 7 is an unusual chromosome anomaly. Here we describe a patient with ring chromosome 7 and we show that both subtelomeres are still present. The diagnosis agrees with 'ring syndrome'. This report helps to further delineate the clinical manifestations of 'ring syndrome' and to distinguish the phenotypic consequences of the presence of a ring chromosome 7 from the phenotypic consequences of terminal chromosome 7 submicroscopic deletions.

摘要

环状染色体7是一种罕见的染色体异常。在此我们描述了一名患有环状染色体7的患者,并表明两个端粒仍然存在。该诊断符合“环状染色体综合征”。本报告有助于进一步明确“环状染色体综合征”的临床表现,并区分环状染色体7存在的表型后果与7号染色体末端亚显微缺失的表型后果。

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