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

AuthorsMadrigal, I.; Rodríguez-Revenga, L.; Sánchez, Ana; Martínez, Francisco; Fernández Carvajal, Mª Isabel ; Arranz, J. A.; Tejada, María Isabel; Pérez-Jurado, Luis Alberto; Estivill, Xavier; Milà, Montserrat
KeywordsMental retardation
Copy Number Variations (CNV)
Array Comparative Genomic Hybridization (aCGH)
Tiling path array
Issue Date29-Nov-2007
PublisherBioMed Central
CitationBMC Genomics 8: 443 (2007)
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] This 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.
DescriptionContiene 3 ficheros adicionales con información suplementaria.-- et al.
Publisher version (URL)http://dx.doi.org/10.1186/1471-2164-8-443
Appears in Collections:(IBGM) Artículos
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X_chromosome.pdfArticle main text400,53 kBAdobe PDFThumbnail
1471-2164-8-443-S1.jpegPedigrees of the 8 subjects with clinically relevant imbalances detected by the aCGH36,18 kBJPEGThumbnail
1471-2164-8-443-S2.docSequences of designed MLPA probes35,5 kBMicrosoft WordView/Open
1471-2164-8-443-S3.docPrimers for OPHN1 gene28 kBMicrosoft WordView/Open
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