✦ LIBER ✦

Ullrich-Turner phenotype with unusual manifestation in a patient with mosaicism 45,X/47,XX,+18

✍ Scribed by Franceschini, Piergiorgio; Guala, Andrea; Camerano, Patrizia; Franceschini, Daniele; Vardeu, Maria Paola; Signorile, Federico

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 13 KB
Volume: 62
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19960301)62:1<26::aid-ajmg6>3.0.co;2-u

No coin nor oath required. For personal study only.

✦ Synopsis

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 showing a typical Ullrich-Turner syndrome appearance. This clinical impression was strengthened by photographic doubling of both hemifaces. The patient had normal intelligence and did not show any stigmata of trisomy 18.

📜 SIMILAR VOLUMES

Turner phenotype in a girl with a 45,X/4

Turner phenotype in a girl with a 45,X/46,XX/47,XX,+18 mosaicism

✍ Isabel Lorda-Sanchez; Maria Jose Trujillo; Pilar Gomez-Garre; Marta Rodríguez de 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 146 KB

Unexpected diagnosis of 45,X/47,XX,+18 m

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

✍ Caroline Schluth-Bolard; Damien Sanlaville; Audrey Labalme; Marianne Till; Laure 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 80 KB 👁 1 views

Hypoplastic left heart in a patient with

Hypoplastic left heart in a patient with 45,X/46,XX/47,XXX mosaicism

✍ Bidot-López, Pascual ;Matisoff, David ;Talner, Norman S. ;Hsia, Y. Edward ;Hall, 📂 Article 📅 1978 🏛 John Wiley and Sons 🌐 English ⚖ 173 KB 👁 1 views

Mild clinical presentation in a child wi

Mild clinical presentation in a child with prenatally diagnosed 45,X/47,XX,+18 mosaicism

✍ Chanel T. Tyler; Gregory M. Rice; Margo Grady; Gordana Raca 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 224 KB 👁 1 views

Pigmentary mosaicism following the lines

Pigmentary mosaicism following the lines of Blaschko in a girl with a double aneuploidy mosaicism: (47,XX,+7/45,X)

✍ Renée C. Niessen; Marcel F. Jonkman; Nies Muis; Roel Hordijk; Anthonie J. van Es 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 180 KB 👁 2 views

Ullrich-Turner syndrome in mother and da

Ullrich-Turner syndrome in mother and daughter: Prenatal diagnosis of a 46, X, del(X)(p21) offspring from a 45, X mother with low-level mosaicism for the del(X)(p21) in one ovary

✍ Varela, M. ;Shapira, E. ;Hyman, D. B. 📂 Article 📅 1991 🏛 John Wiley and Sons 🌐 English ⚖ 226 KB 👁 2 views