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Prenatal detection of cri du chat syndrome on uncultured amniocytes using fluorescencein situhybridization (FISH)

 

作者: Mark J. Pettenati,   Rosa Hayworth,   Kelly Cox,   P. Nagesh Rao,  

 

期刊: Clinical Genetics  （WILEY Available online 1994）
卷期: Volume 45, issue 1  

页码: 17-20

 

ISSN:0009-9163

 

年代: 1994

 

DOI:10.1111/j.1399-0004.1994.tb03983.x

 

出版商: Blackwell Publishing Ltd

 

关键词: cri du chat;fluorescencein situhybridization (FISH);5p

 

数据来源: WILEY

 

摘要:

Fluorescencein situhybridization (FISH) with a chromosome‐region‐specific DNA probe was used prospectively on uncultured amniocyte interphase cells to detect an unbalanced chromosome abnormality that resulted in cri du chat or 5p – syndrome. Confirmation was performed by routine cytogen

 

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