Further evidence for germinal mosaicism in cleft hand/cleft foot syndrome.Two affected halfsisters and normal father

Authors
De Smet, L Devriendt, K Fryns, JP
Citation
L. De Smet et al., Further evidence for germinal mosaicism in cleft hand/cleft foot syndrome.Two affected halfsisters and normal father, GEN COUNSEL, 12(3), 2001, pp. 251-254
Citations number
12
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology
Journal title
GENETIC COUNSELING
ISSN journal
10158146 → ACNP
Volume
12
Issue
3
Year of publication
2001
Pages
251 - 254
Database
ISI
SICI code
1015-8146(2001)12:3<251:FEFGMI>2.0.ZU;2-0
Abstract
Further evidence for germinal mosaicism in cleft hand/cleft foot syndrome. Two affected half sisters and normal father. In this report we present two half sisters with typical cleft hand/cleft foot syndrome. Their father is n ormal, and family history is negative. This observation provides further ev idence for germinal mosaicism in this autosomal dominant condition, with va riable expression and penetrance.