Pseudotrisomy 13 syndrome in siblings

Authors
Amor, DJ Woods, CG
Citation
Dj. Amor et Cg. Woods, Pseudotrisomy 13 syndrome in siblings, CLIN DYSMOR, 9(2), 2000, pp. 115-118
Citations number
15
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology
Journal title
CLINICAL DYSMORPHOLOGY
ISSN journal
09628827 → ACNP
Volume
9
Issue
2
Year of publication
2000
Pages
115 - 118
Database
ISI
SICI code
0962-8827(200004)9:2<115:P1SIS>2.0.ZU;2-H
Abstract
We describe a brother and sister who both had holoprosencephaly, polydactyl y, cardiac lesions and a normal karyotype. The parents were first cousins a nd a diagnosis of pseudotrisomy 13 syndrome is suggested. This report provi des further support that the inheritance of pseudotrisomy 13 syndrome is au tosomal recessive. Clin Dysmorphol 9: 115-118 (C) 2000 Lippincott Williams & Wilkins.