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Cytogenetic Findings in Moderate and Severe Mental Retardation A Study of an Institutionalized Population of 1991 Patients

 

作者: J. P. FRYNS,   A. KLECZKOWSKA,   E. KUBIEŃ,   H. VAN DEN BERGHE,  

 

期刊: Acta Pædiatrica  (WILEY Available online 1984)
卷期: Volume 73, issue 1  

页码: 3-23

 

ISSN:0803-5253

 

年代: 1984

 

DOI:10.1111/j.1651-2227.1984.tb10001.x

 

出版商: Blackwell Publishing Ltd

 

关键词: mental retardation;chromosomal anomalies;fragile X syndrome

 

数据来源: WILEY

 

摘要:

AbstractThe cytogenetic data of a large scale study in an institutionalized population of 1991 moderately and severely mentally retarded patients are presented. In 21.3% of these patients a chromosomal aberration was diagnosed (14.9% Down syndrome patients and 3.5%“other chromosomal anomalies”). A fragile X screening was performed in 354 males, and was found to be positive in 57 (16.1% positive). Different chromosomal variants were present in another 6% of this population. Detailed results are presented on the different groups of chromosomal aberrati

 

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