Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/7530
Citations
Scopus Web of Science® Altmetric
?
?
Type: Journal article
Title: Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1
Author: Villard, L.
Briault, S.
Lossi, A.
Paringaux, C.
Belougne, J.
Colleaux, L.
Pincus, D.
Woollatt, E.
Lespinasse, J.
Munnich, A.
Moraine, C.
Fontes, M.
Gecz, J.
Citation: Journal of Medical Genetics, 1999; 36(10):754-758
Publisher: BMJ PUBLISHING GROUP
Issue Date: 1999
ISSN: 0022-2593
1468-6244
Statement of
Responsibility: 
Villard, Laurent; Briault, Sylvain; Lossi, Anne-Marie; Paringaux, Christine; Belougne, Jerome; Colleaux, Laurence; Pincus, D R; Woollatt, E; Lespinasse, James; Munnich, Arnold; Moraine, Claude; Fontes, Michel; Gecz, Jozef
Abstract: Two unrelated mildly retarded males with inversions of the X chromosome and non-specific mental retardation (MRX) are described. Case 1 has a pericentric inversion 46,Y,inv(X)(p11.1q13.1) and case 2 a paracentric inversion 46,Y,inv(X) (q13.1q28). Both male patients have severe learning difficulties. The same chromosomal abnormalities were found in their mothers who are intellectually normal. Fluorescence in situ hybridisation mapping showed a common area of breakage of each of the inverted chromosomes in Xq13.1 near DXS131 and DXS162. A detailed long range restriction map of the breakpoint region was constructed using YAC, PAC, and cosmid clones. We show that the two inverted chromosomes break within a short 250 kb region. Moreover, a group of ESTs corresponding to an as yet uncharacterised gene was mapped to the same critical interval. We hypothesise that the common inversion breakpoint region of the two cases in Xq13.1 may contain a new MRX gene.
Keywords: inverted X chromosome
non-specific X linked mental retardation
XLMR
MRX
Rights: Copyright © 1999 by the BMJ Publishing Group Ltd.
DOI: 10.1136/jmg.36.10.754
Published version: http://jmg.bmj.com/cgi/content/abstract/36/10/754
Appears in Collections:Aurora harvest 4
Paediatrics publications

Files in This Item:
File Description SizeFormat 
hdl_7530.pdf162.63 kBPublisher's PDF View/Open


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.