Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/7530
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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.M. 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 |
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