Document Detail


Cosegregation of hypertrophic cardiomyopathy and a fragile site on chromosome 16 in a large Italian family.
MedLine Citation:
PMID:  2359098     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We studied the karyotypes of 10 members of a family in whom hypertrophic cardiomyopathy is segregating as an autosomal dominant trait. In all those affected by the disease, a fragile site on the long arm of chromosome 16 was found, expressed with different frequencies, but the unaffected family members did not show this trait.
Authors:
M Ferraro; G Scarton; M Ambrosini
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of medical genetics     Volume:  27     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1990 Jun 
Date Detail:
Created Date:  1990-07-27     Completed Date:  1990-07-27     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  363-6     Citation Subset:  IM    
Affiliation:
Dipartimento di Genetica e Biologia Molecolare, Università La Sapienza, Rome, Italy.
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MeSH Terms
Descriptor/Qualifier:
Adult
Cardiomyopathy, Hypertrophic / genetics*,  mortality
Child
Chromosome Banding
Chromosome Fragile Sites
Chromosome Fragility*
Chromosomes, Human, Pair 16*
Crossing Over, Genetic
Gene Frequency*
Humans
Incidence
Italy
Karyotyping
Middle Aged
Pedigree
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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