EXCLUSION OF LINKAGE TO 14Q23-24 IN A FAMILY WITH HOLT-ORAM SYNDROME

Citation
Jc. Ruiz et al., EXCLUSION OF LINKAGE TO 14Q23-24 IN A FAMILY WITH HOLT-ORAM SYNDROME, Clinical genetics, 46(3), 1994, pp. 257-259
Citations number
9
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
00099163
Volume
46
Issue
3
Year of publication
1994
Pages
257 - 259
Database
ISI
SICI code
0009-9163(1994)46:3<257:EOLT1I>2.0.ZU;2-G
Abstract
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.