Holt-Gram syndrome is an autosomal dominant disorder with congenital h
eart defects and skeletal malformations of the upper extremities. A pa
tient with a deletion of 14q23-24 and Holt-Gram syndrome has been desc
ribed. In this report, however, genetic linkage to the 14q23-24 region
is excluded in a multigeneration family with five available individua
ls affected with Holt-Gram syndrome. Familial Holt-Gram syndrome might
be different from the syndrome with the 14q23-24 deletion.