RECURRENCE OF PALLISTER-HALL SYNDROME IN 2 SIBS

Authors
THOMAS HM TODD PJ HEAF D FRYER AE
Citation
Hm. Thomas et al., RECURRENCE OF PALLISTER-HALL SYNDROME IN 2 SIBS, Journal of Medical Genetics, 31(2), 1994, pp. 145-147
Citations number
8
Categorie Soggetti
Genetics & Heredity
Journal title
Journal of Medical Genetics → ACNP
ISSN journal
00222593
Volume
31
Issue
2
Year of publication
1994
Pages
145 - 147
Database
ISI
SICI code
0022-2593(1994)31:2<145:ROPSI2>2.0.ZU;2-1
Abstract
We report the first definite sib recurrence of Pallister-Hall syndrome in a family without a cytogenetically visible chromosome abnormality. The father of these two sibs was born with nearly identical digital a bnormalities and could represent either mild expression or gonosomal m osaicism for a dominant gene.