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Myotonic dystrophy and chromosome translocation segregating in the same family

 

作者: NeriG.,   BertiniE.,   SerraA.,   TedeschiB.,   CampanaM.,   TonaliP.,   MercurioD. De,   AngeliniC.,  

 

期刊: Journal of Neurogenetics  （Taylor Available online 1987）
卷期: Volume 4, issue 1  

页码: 47-56

 

ISSN:0167-7063

 

年代: 1987

 

DOI:10.3109/01677068709102332

 

出版商: Taylor&Francis

 

关键词: Chromosome translocation;Myotonic dystrophy;Recurrent abortion

 

数据来源: Taylor

 

摘要:

We report on a family segregating the myotonic dystrophy (DM) gene and at(5;8)reciprocal translocation. The DM presented the characteristics typically seen in this disease, i.e. full penetrance, broad expressivity, apparent anticipation in successive generations, presence of a congenital form transmitted by a carrier mother. The family was uninformative for linkage studies with theLutheranandSecretorloci. The concordance between DM and chromosome translocation in 8 out of 9 individuals at risk was apparently due to chance.

 

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