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Distal 18q deletion without clinical findings of 18q- syndrome.

作者信息

Qazi Q H, Madahar C, Alvi S, McGann B

出版信息

Ann Genet. 1980;23(1):60-2.

PMID:6965846
Abstract

A de nova translocation of long arm of chromosome 3 to the distal third of long arm of 18 was detected in a 10 years old boy, whose phenotype has been somewhat affected. Although the translocation has resulted in loss of distal segment of 18q, clinically he bears little resemblance to 18q- syndrome.

摘要

相似文献

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引用本文的文献

1
Beckwith-Wiedemann syndrome in a child with chromosome 18q deletion.一名患有18号染色体长臂缺失的儿童患贝克威思-维德曼综合征。
J Med Genet. 1998 Feb;35(2):162-4. doi: 10.1136/jmg.35.2.162.
2
Molecular characterization of patients with 18q23 deletions.18q23缺失患者的分子特征分析
Am J Hum Genet. 1997 Apr;60(4):860-8.