New insight into “heart–hand” syndromes: a newly discovered chromosomal abnormality in a family with “heart–hand” syndrome

Heart–hand syndromes are a genetic heterogeneous family of disorders, which are characterised by congenital cardiac and forelimb anomalies. We describe a deletion on chromosome 6, which seems to be connected to the phenotypic expression of a heart–hand syndrome in many affected members of a family who, in addition to the characteristic hypoplastic, manifested hyperplastic skeletal abnormalities. This newly discovered chromosomal abnormality confirms once more the genetic heterogeneity of the syndrome.