Cosegregation of hypertrophic cardiomyopathy and a fragile site on chromosome 16 in a large Italian family.

Abstract

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.