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Title: Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH
Authors: Kousoulidou, Ludmila ×
Parkel, Sven
Zilina, Ga
Palta, Priit
Puusepp, Helen
Remm, Maido
Turner, Gillian
Boyle, Jackie
Van Bokhoven, Hans
De Brouwer, Arjan
Van Esch, Hilde
Froyen, Guido
Ropers, Hans-Hilger
Chelly, Jamel
Moraine, Claude
Gecz, Jozef
Kurg, Ants
Patsalis, Philippos C #
Issue Date: Nov-2007
Publisher: Elsevier science bv
Series Title: European Journal of Medical Genetics vol:50 issue:6 pages:399-410
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.
URI: 
ISSN: 1769-7212
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Molecular Genetics Section (-)
Human Genome Laboratory
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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