✦ LIBER ✦

Phenotypic expression of tissue mosaicism in a 45,X/46,X,dicY(q11.2) female

✍ Scribed by Udler, Yevgenia ;Kauschansky, Arieh ;Yeshaya, Josepha ;Freedman, Jane ;Barkai, Uriel ;Tobar, Ana ;Okon, Elimelech ;Halpern, Gabrielle J. ;Shohat, Mordechai ;Legum, Cyril

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 395 KB
Volume: 102
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1456

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Multiple congenital anomalies in a fetus

Multiple congenital anomalies in a fetus with 45,X/46,X,r(X)(p11.22q12) mosaicism

✍ Nowaczyk, Malgorzata J.M.; Ramsay, Jennifer A.; Mohide, Patrick; Tomkins, Darrel 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 15 KB 👁 1 views

Ring X chromosomes that do not undergo inactivation may cause malformations and mental retardation. We report on a fetus with anencephaly, total dorsal rachischisis, and diaphragmatic hernia that was found to have a mosaic 45,X/46,X,r(X)(p11.22q12) karyotype. Fluorescent in situ hybridization (FISH)

Determination of the sexual phenotype in

Determination of the sexual phenotype in a child with 45,X/46,X,Idic(Yp) mosaicism: Importance of the relative proportion of the 45,X line in gonadal tissue

✍ Alexis D. Guedes; Bianca Bianco; Mônica V.N. Lipay; Décio Brunoni; Maria de Lour 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 137 KB 👁 1 views

An infant with a mosaic 45,X/46,X,psu di

An infant with a mosaic 45,X/46,X,psu dic(Y) (pter→q11.2:q11.2→pter) karyotype and mixed gonadal dysgenesis studied for extent of mosaicism in the gonads

✍ Reddy, K.S.; Sulcova, V.; Ho, C.K.; Conner, E.D.; Khurana, A. 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 444 KB

An infant with mixed gonadal dysgenesis was found to have a 45,X/46Xpsu dic(Y) karyotype. A low level (8%) of mosaicism for the dic(Y) cell line was observed in peripheral blood lymphocytes and skin fibroblasts. The dicentric nature of the Y chromosome became apparent in fluorescence in situ hybridi

Molecular breakpoint analysis and releva

Molecular breakpoint analysis and relevance of variable mosaicism in a woman with short stature, primary amenorrhea, unilateral gonadoblastoma, and a 46,X,del(Y)(q11)/45,X karyotype

✍ Kotzot, Dieter ;Dufke, Andreas ;Tzschach, Andreas ;Baeckert-Sifeddine, Iris-Tatj 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 152 KB

Lack of X inactivation: Loss of one X in

Lack of X inactivation: Loss of one X inactivation center in a case with mos45,X, -21, +der(21)t(X;21) (p21.3;p11.2)/46,X,t(X;21) (p21.3;p11.2)

✍ Ishikiriyama, Satoshi ;Iai, Mizue ;Tanabe, Yuzo 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 453 KB 👁 1 views

Molecular and clinical description of a

Molecular and clinical description of a girl with a 46,X,t(Y;4)(q11.2;p16)/45,X,der(4)t(Y;4)(q11.2;p16) karyotype and a small cryptic 4p subtelomeric deletion

✍ Laila Zahed; Carolina Sismani; M. Ioannides; Monzer Saleh; G. Koumbaris; Mazen K 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 158 KB

## Abstract We report on a 13‐year‐old female with short stature, minimal axillary and pubic hair, no breast development, absence of uterus and ovaries, with the following karyotype on lymphocyte cultures: 46,X,t(Y;4)(q11.2;p16)[40]/45,X,der(4)t(Y;4)(q11.2;p16)[10]. Loss of the small derivative Y c