ArticleJournal of medical genetics2006
Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.
Article in Journal of medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 97 citations in OpenAlex.
- Article
- Review
- Gene therapy for neurological disorders: progress and prospects.Nature reviews. Drug discovery · 2018Review
- Intellectual disability and epilepsy due to the K/L-mediated Xq28 duplication: Further evidence of a distinct, dosage-dependent phenotype.American journal of medical genetics. Part A · 2018Article
- Article
- Infectious and immunologic phenotype of MECP2 duplication syndrome.Journal of clinical immunology · 2015Article
- Article
- X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.Human genetics · 2014Article
- MECP2 duplication phenotype in symptomatic females: report of three further cases.Molecular cytogenetics · 2014Article
- A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections.BMC medical genetics · 2012Article
- Article
- Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disorders.Journal of genetics · 2011Article
- MECP2 duplications in six patients with complex sex chromosome rearrangements.European journal of human genetics : EJHG · 2011Article
- A new normalizing algorithm for BAC CGH arrays with quality control metrics.Journal of biomedicine & biotechnology · 2011Article
- The MECP2 duplication syndrome.American journal of medical genetics. Part A · 2010Review
- High frequency of nonrecurrent MECP2 duplications among Brazilian males with mental retardation.Journal of molecular neuroscience : MN · 2010Article
- Genetic copy number variants in sib pairs both affected with schizophrenia.Journal of biomedical science · 2010Article
- Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome.Annals of neurology · 2009Article
- Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus.Human molecular genetics · 2009Article
- Genomic disorders ten years on.Genome medicine · 2009Article
Corrections and comments
- Erratum issued
Authors and funding
16 authors at 8 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Several studies have shown that array based comparative genomic hybridisation (CGH) is a powerful tool for the detection of copy number changes in the genome of individuals with a congenital disorder. In this study, 40 patients with non-specific X linked mental retardation were analysed with full coverage, X chromosomal, bacterial artificial chromosome arrays. Copy number changes were validated by multiplex ligation dependent probe amplification as a fast method to detect duplications and deletions in patient and control DNA. This approach has the capacity to detect copy number changes as small as 100 kb. We identified three causative duplications: one family with a 7 Mb duplication in Xp22.2 and two families with a 500 kb duplication in Xq28 encompassing the MECP2 gene. In addition, we detected four regions with copy number changes that were frequently identified in our group of patients and therefore most likely represent genomic polymorphisms. These results confirm the power of array CGH as a diagnostic tool, but also emphasise the necessity to perform proper validation experiments by an independent technique.
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