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Interstitial deletion of chromosome 1 del (1) (q32 q42): case report and review of the literature

 

作者: P. Sarda,   G. Lefort,   S. Taviaux,   C. Humeau,   D. Rieu,  

 

期刊: Clinical Genetics  （WILEY Available online 1992）
卷期: Volume 41, issue 1  

页码: 25-27

 

ISSN:0009-9163

 

年代: 1992

 

DOI:10.1111/j.1399-0004.1992.tb03623.x

 

出版商: Blackwell Publishing Ltd

 

关键词: chromosome 1 q;interstitial deletion;monosomy;multiple congenital anomalies

 

数据来源: WILEY

 

摘要:

Sarda P, Lefort G, Taviaux S, Humeau C, Rieu D. Interstitial deletion of chromosome 1 del (1) (q32 q42): case report and review of the literature. Clin Genet 1992:41:25–27.We describe the case of a female infant with multiple congenital anomalies who was found to have ade novodistal interstitial del (1) (q32 q42). The clinical features of other reports of similar deletions are briefly reviewed. No characteristic phenotype seems to be as yet definable due to the limited number of cases publishe

 

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