ULLRICH-TURNER PHENOTYPE WITH UNUSUAL MANIFESTATION IN A PATIENT WITHMOSAICISM 45,X 47,XX,+18/

Citation
P. Franceschini et al., ULLRICH-TURNER PHENOTYPE WITH UNUSUAL MANIFESTATION IN A PATIENT WITHMOSAICISM 45,X 47,XX,+18/, American journal of medical genetics, 62(1), 1996, pp. 26-28
Citations number
13
Categorie Soggetti
Genetics & Heredity
ISSN journal
01487299
Volume
62
Issue
1
Year of publication
1996
Pages
26 - 28
Database
ISI
SICI code
0148-7299(1996)62:1<26:UPWUMI>2.0.ZU;2-P
Abstract
We report on a girl with Ullrich-Turner phenotype and 45,X/47,XX,+18 c hromosomal mosaicism, Only two other patients with similar mosaicism h ave been reported, both girls with XY sex chromosome constitution, The face of the patient was highly asymmetric, the right side being almos t normal, the left showing a typical Ullrich-Turner syndrome appearanc e, This clinical impression was strengthened by photographic doubling of both hemifaces. The patient had normal intelligence and did not sho w any stigmata Of trisomy 18. (C) 1996 Wiley-Liss, Inc.