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.
Adamopoulos
Stamatis
S
Second Department of Cardiovascular Medicine, Onassis Cardiac Surgery Center, Riga Ferreou Str. 18-20, Maroussi 15122, Athens, Greece.
Kokkinou
Stavroula
S
Parissis
John T
JT
Kremastinos
Dimitrios Th
DT
D000015:Abnormalities, Multiple / Q000235:genetics*; D001133:Bones of Upper Extremity / Q000002:abnormalities*; D002869:Chromosome Aberrations; D002896:Chromosomes, Human, Pair 6; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D013577:Syndrome