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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
Issue Date: 1999
ISSN: 0022-2593
Statement of
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
Rights: Copyright © 1999 by the BMJ Publishing Group Ltd.
DOI: 10.1136/jmg.36.10.754
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Paediatrics publications

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