Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/43779
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Type: Journal article
Title: Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH
Author: Kousoulidou, L.
Parkel, S.
Zilina, O.
Palta, P.
Puusepp, H.
Remm, M.
Turner, G.
Boyle, J.
van Bokhoven, H.
de Brouwer, A.
Van Esch, H.
Froyen, G.
Ropers, H.
Chelly, J.
Moraine, C.
Gecz, J.
Kurg, A.
Patsalis, P.
Citation: European Journal of Medical Genetics, 2007; 50(6):399-410
Publisher: Editions Scientifiques Medicales Elsevier
Issue Date: 2007
ISSN: 1769-7212
1878-0849
Statement of
Responsibility: 
Ludmila Kousoulidou, Sven Parkel, Olga Zilina, Priit Palta, Helen Puusepp, Maido Remm, Gillian Turner, Jackie Boyle, Hans van Bokhoven, Arjan de Brouwer, Hilde Van Esch, Guy Froyen, Hans-Hilger Ropers, Jamel Chelly, Claude Moraine, Jozef Gecz, Ants Kurg and Philippos C. Patsalis
Abstract: The rapid advancement of high-resolution DNA copy number assessment methods revealed the significant contribution of submicroscopic genetic imbalances to abnormal phenotypes, including mental retardation. In order to detect submicroscopic genetic imbalances, we have screened 20 families with X-linked mental retardation (XLMR) using a chromosome X-specific array-MAPH platform with median resolution of 238 kb. Among the 20 families, 18 were experimental, as they were not previously screened with any microarray method, and two were blind controls with known aberrations, as they were previously screened by array-CGH. This study presents the first clinical application of chromosome X-specific array-MAPH methodology. The screening of 20 affected males from 20 unrelated XLMR families resulted in the detection of an unknown deletion, spanning a region of 7-23 kb. Family studies and population screening demonstrated that the detected deletion is an unknown rare copy number variant. One of the control samples, carrying approximately 6-Mb duplication was correctly identified, moreover it was found to be interrupted by a previously unknown 19 kb region of normal copy number. The second control 50 kb deletion was not identified, as this particular region was not covered by array-MAPH probes. This study demonstrates that the chromosome X-specific array-MAPH platform is a valuable tool for screening patients with XLMR, or other X-linked disorders, and emerges the need for introducing new high-resolution screening methods for the detection of genetic imbalances. (C) 2007 Elsevier Masson SAS. All fights reserved.
Keywords: Chromosomes, Human, X; Humans; Mental Retardation, X-Linked; DNA Probes; Microarray Analysis; Nucleic Acid Amplification Techniques; Polymerase Chain Reaction; Nucleic Acid Hybridization; Pedigree; Gene Dosage; Female; Male; Genetic Linkage
Description: Copyright © 2007 Elsevier Masson SAS All rights reserved.
RMID: 0020074541
DOI: 10.1016/j.ejmg.2007.09.001
Description (link): http://www.elsevier.com/wps/find/journaldescription.cws_home/705239/description#description
Appears in Collections:Molecular and Biomedical Science publications

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