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Trisomy 12p mosaicism syndrome

 

作者: C. B. KARKI,   R. M. WALTERS,  

 

期刊: Journal of Intellectual Disability Research  （WILEY Available online 1990）
卷期: Volume 34, issue 1  

页码: 75-80

 

ISSN:0964-2633

 

年代: 1990

 

DOI:10.1111/j.1365-2788.1990.tb01517.x

 

出版商: Blackwell Publishing Ltd

 

数据来源: WILEY

 

摘要:

ABSTRACT.A case of trisomy 12p mosaicism originatingde novoin a 21‐year‐old profoundly mentally handicapped female who presented with severe behaviour problems is described. The 12p syndrome has been confirmed by clinical, cytogenetic and biochemical studies. The findings are compared with those of other cases with trisomy 12p arisingde n

 

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