TERMINAL DELETION OF 6P - REPORT OF A NEW CASE

Citation
A. Plaja et al., TERMINAL DELETION OF 6P - REPORT OF A NEW CASE, Annales de genetique, 37(4), 1994, pp. 196-199
Citations number
11
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
00033995
Volume
37
Issue
4
Year of publication
1994
Pages
196 - 199
Database
ISI
SICI code
0003-3995(1994)37:4<196:TDO6-R>2.0.ZU;2-9
Abstract
The authors report the case of a girl with psychomotor and growth reta rdation, ventricular septal defect, patent ductus arteriosus, bulging forehead, prominent philtrum, low nasal bridge, inner epicanthal folds , strabismus, miosis, low set ears with prominence of antihelices, sho rt neek, single transverse crease and camptodactyly of the fourth fing er in both hands. G-banded chromosomal analysis revealed a 46, XX, del (6) (p23) chromosome constitution, A review of the phenotypes of the patients known with this chromosome deletion is presented.