XXY MALE WITH X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA (HAPPLE SYNDROME)

Authors
SUTPHEN R AMAR MJ KOUSSEFF BG TOOMEY KE
Citation
R. Sutphen et al., XXY MALE WITH X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA (HAPPLE SYNDROME), American journal of medical genetics, 57(3), 1995, pp. 489-492
Citations number
25
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
57
Issue
3
Year of publication
1995
Pages
489 - 492
Database
ISI
SICI code
0148-7299(1995)57:3<489:XMWXDC>2.0.ZU;2-Q
Abstract
Happle syndrome is an X-linked dominant disorder with presumed lethali ty in hemizygous males; familial occurrence is rare. We describe a fam ily with Happle syndrome affecting individuals in 3 generations. A man in this family is the first known male patient with Happle syndrome. He is severely affected; this may be due to his 47, XXY karyotype. (C) 1995 Wiley-Liss, Inc.