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
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.