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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, Irene
dc.contributor.author Rodríguez Revenga, Laia
dc.contributor.author Armengol i Dulcet, Lluís
dc.contributor.author González, Eva
dc.contributor.author Rodríguez Santiago, Benjamín
dc.contributor.author Badenas, Celia
dc.contributor.author Sánchez Díaz, Aurora
dc.contributor.author Martínez, Francisco
dc.contributor.author Guitart, Miriam
dc.contributor.author Tejada Sánchez, Martha Isabel
dc.contributor.author Arranz, José Antonio
dc.contributor.author Tejada Minguez, Maria-Isabel
dc.contributor.author Pérez Jurado, Luis Alberto
dc.contributor.author Estivill, Xavier, 1955-
dc.contributor.author Milà, Montserrat
dc.date.accessioned 2012-05-03T08:26:18Z
dc.date.available 2012-05-03T08:26:18Z
dc.date.issued 2007
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: 10.1186/1471-2164-8-443
dc.identifier.issn 1471-2164
dc.identifier.uri http://hdl.handle.net/10230/16397
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/pdf
dc.language.iso eng
dc.publisher BioMed Central
dc.relation.ispartof BMC Genomics. 2007;8:443
dc.rights © 2007 Madrigal et al. Creative Commons Attribution License
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 retardation
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.1186/1471-2164-8-443
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion


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