NOVEL KARYOTYPE IN THE ULLRICH-TURNER-SYNDROME - 45,X 46,X,R(X)/46,X,DIC(X) - INVESTIGATED WITH FLUORESCENCE IN-SITU HYBRIDIZATION/

Authors
ROBSON L JACKSON J COWELL C SILLENCE D SMITH A
Citation
L. Robson et al., NOVEL KARYOTYPE IN THE ULLRICH-TURNER-SYNDROME - 45,X 46,X,R(X)/46,X,DIC(X) - INVESTIGATED WITH FLUORESCENCE IN-SITU HYBRIDIZATION/, American journal of medical genetics, 50(3), 1994, pp. 251-254
Citations number
11
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
50
Issue
3
Year of publication
1994
Pages
251 - 254
Database
ISI
SICI code
0148-7299(1994)50:3<251:NKITU->2.0.ZU;2-8
Abstract
A 10-year-old girl with Ullrich-Turner syndrome was found to have the novel karyotype 45,X/46,X,r(X)(p11q11)/46,X,dic(X)(p11). Fluorescence in situ hybridization (FISH) with the a satellite X centromere probe e stablished the origin of the small ring chromosome. Scanning a large n umber of cells by interphase FISH showed that the dicentric (X) was th e least prevalent cell line. The common break-point of Xp11 suggests a sequence of errors as the mechanism whereby these 3 distinct cell lin es have arisen. (C) 1994 Wiley-Liss, Inc.