Familial Mongolism

 

作者: Margery W. Shaw,  

 

期刊: Cytogenetic and Genome Research  (Karger Available online 1962)
卷期: Volume 1, issue 3-4  

页码: 141-179

 

ISSN:1424-8581

 

年代: 1962

 

DOI:10.1159/000129726

 

出版商: S. Karger AG

 

数据来源: Karger

 

摘要:

Cytogenetic studies of 77 individuals, including 13 mongols, in six families are described. Chromosomal abnormalities which are segregating include a 13–15/21 type translocation (three families), a 21/22 translocation (one family), and a deletion of the short arm of chromosome no. 21 (one family). Clinical, biographical, and karyological data are presented. Segregation ratios are discussed. Serological data for eight blood group loci are given in all families in a search for linkage of these markers with the mongol chromosom

 

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