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Down's syndrome and fragile‐X syndrome in a single patient

 

作者: R. A. COLLACOTT,   D. P. DUCKETT,   D. MATHEWS,   J. S. WARRINGTON,   I. D. YOUNG,  

 

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

页码: 81-86

 

ISSN:0964-2633

 

年代: 1990

 

DOI:10.1111/j.1365-2788.1990.tb01518.x

 

出版商: Blackwell Publishing Ltd

 

数据来源: WILEY

 

摘要:

ABSTRACT.A profoundly mentally handicapped patient is described with the karyotype 47,X, fra (X) (q27), + 21. Her phenotype demonstrates features of both Down's Syndrome and fragilc‐X syndrome. The authors believe only one other similar case has been describe

 

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