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A male infant with holoprosencephaly, associated with ring chromosome 21

 

作者: D. C. Aronson,   M. C. E. Jansweijer,   J. M. N. Hoovers,   P. G. Barth,  

 

期刊: Clinical Genetics  （WILEY Available online 1987）
卷期: Volume 31, issue 1  

页码: 48-52

 

ISSN:0009-9163

 

年代: 1987

 

DOI:10.1111/j.1399-0004.1987.tb02766.x

 

出版商: Blackwell Publishing Ltd

 

关键词: Brain abnormality;chromosome aberration;congenital;corpus callosum agenesis;diabetes insipidus;hemivertebra;holoprosencephaly;ring chromosome 21

 

数据来源: WILEY

 

摘要:

An infant with holoprosencephaly and a karyotype 46,XY,r(21) is reported. No distinctive craniofacial features suggesting holoprosencephaly were present in this infant who presented with epilepsy, microcephaly and scoliosis with hemivertebra Th 10.This is the first report which links deletion of chromosome 2lq to the holoprosencephaly phenotype.

 

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