18Q- AND 18Q-RETARDED BOY( MOSAICISM IN A MENTALLY)

Authors
AUSEMS MGEM BHOLA SL POSTBLOK CA HENNEKAM RCM DEFRANCE HF
Citation
Mgem. Ausems et al., 18Q- AND 18Q-RETARDED BOY( MOSAICISM IN A MENTALLY), American journal of medical genetics, 53(3), 1994, pp. 296-299
Citations number
6
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
53
Issue
3
Year of publication
1994
Pages
296 - 299
Database
ISI
SICI code
0148-7299(1994)53:3<296:1A1BMI>2.0.ZU;2-P
Abstract
A mentally retarded boy was found to have an unusual chromosomal mosai cism [46,XY, del(18) (q22)/46,XY,iso psu dic(18)(q23)]. The clinical m anifestations are compatible with the 18q- syndrome, The chromosome al teration was defined by high resolution banding and fluorescence in si tu hybridization (FISH). A mechanism to explain the origin of the two cell lines is presented and discussed. (C) 1994 Wiley-Liss, Inc.