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Inv dup (8) (p21.1 → 22.1): further case report and a new hypothesis on the origin of the chromosome abnormality

 

作者: Marino Gorinati,   Daniele Caufin,   Antonella Minelli,   Luigi Memo,   Gianfranco Gaspardo,   Andrea Dodero,  

 

期刊: Clinical Genetics  （WILEY Available online 1991）
卷期: Volume 39, issue 1  

页码: 55-59

 

ISSN:0009-9163

 

年代: 1991

 

DOI:10.1111/j.1399-0004.1991.tb02985.x

 

出版商: Blackwell Publishing Ltd

 

关键词: congenital malformations;gene‐dosage effect;8p trisomy‐inv dup(8) (p21.1 →p22.1)

 

数据来源: WILEY

 

摘要:

We report a male infant with ade novoinverted duplication of bands 8p 21.1 → 22.1. The clinical features up to 8 months of age and the enzyme investigations are described. A new cytogenetic hypothesis on the genesis of this rare chromosome aberration is also discusse

 

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