X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation

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• dc.contributor.author Madrigal, Ireneca
• dc.contributor.author Rodríguez Revenga, Laiaca
• dc.contributor.author Armengol i Dulcet, Lluísca
• dc.contributor.author González, Evaca
• dc.contributor.author Rodríguez Santiago, Benjamínca
• dc.contributor.author Badenas, Celiaca
• dc.contributor.author Sánchez Díaz, Auroraca
• dc.contributor.author Martínez, Franciscoca
• dc.contributor.author Guitart, Miriamca
• dc.contributor.author Tejada Sánchez, Martha Isabelca
• dc.contributor.author Arranz, José Antonioca
• dc.contributor.author Tejada Minguez, Maria-Isabelca
• dc.contributor.author Pérez Jurado, Luis Albertoca
• dc.contributor.author Estivill, Xavier, 1955-ca
• dc.contributor.author Milà, Montserratca
• dc.date.accessioned 2012-05-03T08:26:18Z
• dc.date.available 2012-05-03T08:26:18Z
• dc.date.issued 2007ca
• dc.description.abstract Background: Aproximately 5–10% of cases of mental retardation in males are due to copy number variations (CNV) on the X chromosome. Novel technologies, such as array comparative genomic hybridization (aCGH), may help to uncover cryptic rearrangements in X-linked mental retardation (XLMR) patients. We have constructed an X-chromosome tiling path array using bacterial artificial chromosomes (BACs) and validated it using samples with cytogenetically defined copy number changes. We have studied 54 patients with idiopathic mental retardation and 20 controls subjects. Results: Known genomic aberrations were reliably detected on the array and eight novel submicroscopic imbalances, likely causative for the mental retardation (MR) phenotype, were detected. Putatively pathogenic rearrangements included three deletions and five duplications (ranging between 82 kb to one Mb), all but two affecting genes previously known to be responsible for XLMR. Additionally, we describe different CNV regions with significant different frequencies in XLMR and control subjects (44% vs. 20%). Conclusion:/nThis tiling path array of the human X chromosome has proven successful for the detection and characterization of known rearrangements and novel CNVs in XLMR patients.
• dc.format.mimetype application/pdfca
• dc.identifier.citation Madrigal I, Rodríguez-Revenga L, Armengol L, González E, Rodríguez B, Badenas C et al. X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation. BMC Genomics. 2007;8:443. DOI: 10.1186/1471-2164-8-443ca
• dc.identifier.doi http://dx.doi.org/10.1186/1471-2164-8-443
• dc.identifier.issn 1471-2164ca
• dc.identifier.uri http://hdl.handle.net/10230/16397
• dc.language.iso engca
• dc.publisher BioMed Centralca
• dc.relation.ispartof BMC Genomics. 2007;8:443
• dc.rights © 2007 Madrigal et al. Creative Commons Attribution Licenseca
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.rights.uri http://creativecommons.org/licenses/by/2.0/
• dc.subject.other Cromosoma X -- Metabolisme
• dc.subject.other Discapacitats mentals
• dc.subject.other Genoma humà
• dc.title X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardationca
• dc.type info:eu-repo/semantics/articleca
• dc.type.version info:eu-repo/semantics/publishedVersion