Towards earlier diagnosis of 22q11 deletions

被引：50

作者：

Tobias, ES ^{[1
]}

Morrison, N ^{[1
]}

Whiteford, ML ^{[1
]}

Tolmie, JL ^{[1
]}

机构：

[1] Yorkhill NHS Trust, Duncan Guthrie Inst Med Genet, Glasgow G3 8SJ, Lanark, Scotland

来源：

ARCHIVES OF DISEASE IN CHILDHOOD | 1999年 / 81卷 / 06期

关键词：

22q11; microdeletions; CATCH; 22; velocardiofacial; DiGeorge syndrome; tetralogy of Fallot;

D O I：

10.1136/adc.81.6.513

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Over a 7 year period, 551 patients were investigated for the presence of a chromosome 22q11 deletion by fluorescence in situ hybridisation. Analysis of the presenting features of the 67 individuals with this chromosome deletion permitted us to devise guidelines to facilitate early diagnosis.

引用

页码：513 / 514

页数：2

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