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A girl with mosaicism for a dicentric X chromosome (45,X/46,X,dic(X) (Xqter→p22::p22→qter))

✍ Scribed by J. F. Mattei; H. Taramasco; M. G. Mattei; C. Lucas; L. Aubert; F. Giraud

Book ID
104709884
Publisher
Springer
Year
1977
Tongue
English
Weight
516 KB
Volume
38
Category
Article
ISSN
0340-6717

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✦ Synopsis

A 12-year-old girl was examined for growth retardation and a few very discrete dysmorphologic stigmata of Turner's syndrome; the genitalia were infantile yet both ovaries possessed functioning follicles. R- and C-banding techniques and Brdu treatment demonstrated a 45,X formula in 95% of lymphocytes, with 5% presenting a 46,X,dic(X) formula. Cytogenetic and clinical problems raised by this observation are discussed in relation to data from the literature.

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Center for barr body condensation. A cas
Center for barr body condensation. A case of Turner's syndrome with 45,X/46,X,dic(X) (Xqter→ p22::p22→qter)
✍ Ingelise Sillesen; Kirsten Rasmussen; Ole Østerballe; Johannes Nielsen 📂 Article 📅 1976 🏛 Springer 🌐 English ⚖ 304 KB

An 11-year-old girl with karyotype 45,X/46,X,dic(X) (Xqter leads to p22::p22 leads to qter) is presented. The abnormal X is always found to be the inactive and late replicating X, and according to previous investigations by Therman et al. (1974) part of the cells are seen to have bipartite Barr bodi

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)