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Unexpected diagnosis of 45,X/47,XX,+18 mosaicism in a girl with mild phenotype

✍ Scribed by Caroline Schluth-Bolard; Damien Sanlaville; Audrey Labalme; Marianne Till; Laurence Michel-Calemard; Azim Rafat; Marie-Thérèse Zabot; Marc Nicolino; Laurent Guibaud; Patrick Edery


Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
80 KB
Volume
149A
Category
Article
ISSN
1552-4825

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Ullrich-Turner phenotype with unusual ma
✍ Franceschini, Piergiorgio; Guala, Andrea; Camerano, Patrizia; Franceschini, Dani 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 13 KB 👁 1 views

We report on a girl with Ullrich-Turner phenotype and 45,W47,XX,+18 chromosomal mosaicism. Only two other patients with similar mosaicism have been reported, both girls with XY sex chromosome constitution. The face of the patient was highly asymmetric, the right side being almost normal, the left sh