Cosegregation of hypertrophic cardiomyopathy and a fragile site on chromosome 16 in a large Italian family.
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.
Ferraro
M
M
Dipartimento di Genetica e Biologia Molecolare, Università La Sapienza, Rome, Italy.
Scarton
G
G
Ambrosini
M
M
D000328:Adult; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics* / Q000401:mortality; D002648:Child; D002871:Chromosome Banding; D043283:Chromosome Fragile Sites; D002873:Chromosome Fragility; D002885:Chromosomes, Human, Pair 16; D003434:Crossing Over, Genetic; D005787:Gene Frequency; D006801:Humans; D015994:Incidence; D007558:Italy; D007621:Karyotyping; D008875:Middle Aged; D010375:Pedigree