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Consanguinity and the genetic control of Down syndrome

 

作者: Hanan A. Hamamy,   Zuhair S. Al‐Hakkak,   Salma Al‐Taha,  

 

期刊: Clinical Genetics  (WILEY Available online 1990)
卷期: Volume 37, issue 1  

页码: 24-29

 

ISSN:0009-9163

 

年代: 1990

 

DOI:10.1111/j.1399-0004.1990.tb03386.x

 

出版商: Blackwell Publishing Ltd

 

关键词: consanguinity;Down syndrome;genetic basis of non‐disjunction

 

数据来源: WILEY

 

摘要:

Eighty‐three infants and children with a professional diagnosis of Down syndrome were studied cytogenetically. The results showed that 81.9% of them were trisomy 21 and 18.1% were the 46/47 + G type of mosaic. All cases were distributed according to parental consanguinity. The results showed that 77.9%, 16.2% and 5.9% of the trisomy 21 cases, and 53.3%, 26.7% and 20.0% of the mosaic cases were from non‐consanguineous, First‐cousin and second‐cousin marriages, respectively. By combining all the cases, these percentages were 73.5%, 18.1% and 8.4%, respectively. Considering the high rate of inbreeding in Iraq (inbreeding coefficient = 0.0225) and using various statistical comparisons, these results revealed the lack of evidence for genetical control of non‐disjuncti

 

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