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. (C) 2004 Elsevier Ireland Ltd. All rights reserved