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Four siblings with Robert's syndrome

 

作者: Ljiljana Zergollern,   Vlasta Hitrec,  

 

期刊: Clinical Genetics  (WILEY Available online 1982)
卷期: Volume 21, issue 1  

页码: 1-6

 

ISSN:0009-9163

 

年代: 1982

 

DOI:10.1111/j.1399-0004.1982.tb02071.x

 

出版商: Blackwell Publishing Ltd

 

关键词: Antenatal diagnosis of Robert's syndrome;cytogenetics of Robert's syndrome;Robert's syndrome

 

数据来源: WILEY

 

摘要:

A Yugoslav family with one female and three male children with Robert's syndrome (RS) is described. To our knowledge, there is no other family with four siblings presenting this genopathy. Most of the symptoms of the fourth sibling were identical to those found in the SC syndrome, suggesting the same genetic origin. The same chromosomal changes which were discovered in the third sibling were also found in the fourth sibling. These chromosomal abnormalities could prove useful for antenatal diagnosis.

 

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