Exclusion of linkage to 14q23-24 in a family with Holt-Oram syndrome.
Holt-Oram syndrome is an autosomal dominant disorder with congenital heart defects and skeletal malformations of the upper extremities. A patient with a deletion of 14q23-24 and Holt-Oram syndrome has been described. In this report, however, genetic linkage to the 14q23-24 region is excluded in a multigeneration family with five available individuals affected with Holt-Oram syndrome. Familial Holt-Oram syndrome might be different from the syndrome with the 14q23-24 deletion.
Ruiz
J C
JC
Center for Human Genetics, University of Leuven, Belgium.
Legius
E
E
Cuppens
H
H
Moens
P
P
Marynen
P
P
Cassiman
J J
JJ
D000015:Abnormalities, Multiple / Q000235:genetics*; D001132:Arm / Q000002:abnormalities*; D002883:Chromosomes, Human, Pair 14; D004247:DNA / Q000032:analysis; D008040:Genetic Linkage; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D010375:Pedigree; D013577:Syndrome
D004247:DNA