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Research Article
Cosegregation of hypertrophic cardiomyopathy and a fragile site on chromosome 16 in a large Italian family.
  1. M Ferraro,
  2. G Scarton,
  3. M Ambrosini
  1. Dipartimento di Genetica e Biologia Molecolare, Università La Sapienza, Rome, Italy.

    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.

    https://doi.org/10.1136/jmg.27.6.363

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