Ruiz J C, Legius E, Cuppens H, Moens P, Marynen P, Cassiman J J
Center for Human Genetics, University of Leuven, Belgium.
Clin Genet. 1994 Sep;46(3):257-9. doi: 10.1111/j.1399-0004.1994.tb04237.x.
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.
