A BOY WITH DEVELOPMENTAL DELAY AND A MATERNALLY INHERITED DELETION IN15Q11Q13

Authors
KING M HARDY C ASENBAUER B KILPATRICK M WEBB T
Citation
M. King et al., A BOY WITH DEVELOPMENTAL DELAY AND A MATERNALLY INHERITED DELETION IN15Q11Q13, Journal of Medical Genetics, 33(5), 1996, pp. 422-425
Citations number
15
Categorie Soggetti
Genetics & Heredity
Journal title
Journal of Medical Genetics → ACNP
ISSN journal
00222593
Volume
33
Issue
5
Year of publication
1996
Pages
422 - 425
Database
ISI
SICI code
0022-2593(1996)33:5<422:ABWDDA>2.0.ZU;2-Y
Abstract
A boy was referred at 8 weeks of age for failure to thrive. Cytogeneti c and molecular studies showed that he had a large proximal deletion o f the maternally derived chromosome 15q. He did not have Angelman synd rome, but at 2 years of age was severely globally delayed. He died at 2 1/2 years of age.