ArticleJournal of medical genetics2007
Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays.
Article in Journal of medical genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 118 citations in OpenAlex.
- Comprehensive evaluation of the child with intellectual disability or global developmental delays.Pediatrics · 2014Pooled it
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- Yield of comparative genomic hybridization microarray in pediatric neurology practice.Neurology. Genetics · 2019Article
- De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.American journal of human genetics · 2016Article
- New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants.Italian journal of pediatrics · 2016Article
- Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development.Molecular cytogenetics · 2016Article
- Application of array-based comparative genomic hybridization to pediatric neurologic diseases.Yonsei medical journal · 2014Article
- Array comparative genomic hybridization: results from an adult population with drug-resistant epilepsy and co-morbidities.European journal of medical genetics · 2012Article
- In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome.Molecular syndromology · 2012Article
- The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.Journal of medical genetics · 2011Article
- Further characterization of microdeletion syndrome involving 2p15-p16.1.American journal of medical genetics. Part A · 2010Article
- Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.American journal of human genetics · 2010Review
- Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases.The Journal of molecular diagnostics : JMD · 2010Article
- A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients.European journal of human genetics : EJHG · 2009Article
- Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization.BMC genomics · 2009Article
- A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first.European journal of human genetics : EJHG · 2009Article
- A novel 6.14 Mb duplication of chromosome 8p21 in a patient with autism and self mutilation.Journal of autism and developmental disorders · 2009Article
- Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.Journal of medical genetics · 2008Article
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Authors and funding
18 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundUsing array techniques, it was recently shown that about 10% of patients with mental retardation of unknown origin harbour cryptic chromosomal aneusomies. However, data analysis is currently not standardised and little is known about its sensitivity and specificity.
methodsWe have developed an electronic data analysis tool for gene-mapping SNP arrays, a software tool that we call Copy Number Variation Finder (CNVF). Using CNVF, we analysed 104 unselected patients with mental retardation of unknown origin with a genechip mapping 100K SNP array and established an optimised set of analysis parameters.
resultsWe detected deletions as small as 20 kb when covered by at least three single-nucleotide polymorphisms (SNPs) and duplications as small as 150 kb when covered by at least six SNPs, with only one false-positive signal in six patients. In 9.1% of patients, we detected apparently disease-causing or de novo aberrations ranging in size from 0.4 to 14 Mb. Morphological anomalies in patients with de novo aberrations were equal to that of unselected patients when measured with de Vries score.
conclusionOur standardised CNVF data analysis tool is easy to use and has high sensitivity and specificity. As some genomic regions are covered more densely than others, the genome-wide resolution of the 100K array is about 400-500 kb for deletions and 900-1000 kb for duplications. The detection rate of about 10% of de novo aberrations is independent of selection of patients for particular features. The incidental finding in two patients of heterozygosity for the 250 kb recurrent deletion at the NPH1 locus, associated with autosomal recessive juvenile nephronophthisis, which was inherited from a healthy parent, highlights the fact that inherited aberrations might be disease-related even though not causal for mental retardation.
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