BECKWITH-WIEDEMANN-SYNDROME IN A CHILD WITH CHROMOSOME 18Q DELETION

Authors
BREWER CM LAM WWK HAYWARD C GRACE E MAHER ER FITZPATRICK DR
Citation
Cm. Brewer et al., BECKWITH-WIEDEMANN-SYNDROME IN A CHILD WITH CHROMOSOME 18Q DELETION, Journal of Medical Genetics, 35(2), 1998, pp. 162-164
Citations number
22
Categorie Soggetti
Genetics & Heredity
Journal title
Journal of Medical Genetics → ACNP
ISSN journal
00222593
Volume
35
Issue
2
Year of publication
1998
Pages
162 - 164
Database
ISI
SICI code
0022-2593(1998)35:2<162:BIACWC>2.0.ZU;2-Z
Abstract
Molecular genetic investigation of a female infant with Beckwith-Wiede mann syndrome (BWS) showed loss of IGF2 imprinting but no evidence of uniparental disomy. In addition, a deletion of chromosome 18q22.1 was identified in this infant without clinical features of 18q-syndrome (m icrocephaly, short stature, hypotonia). The association of a chromosom e 18 deletion and BWS may be coincidental or may indicate the location of a trans activating regulator element for maintenance of IGF2 impri nting.