ArticleChild development
The utility of chromosomal microarray analysis in developmental and behavioral pediatrics.
Article in Child development. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed.
- Array-CGH in children with mild intellectual disability: a population-based study.European journal of pediatrics · 2015Trial
- Chromosome Microarray Analysis of 3832 Patients over 15 Years Confirms Genome-Wide Copy Number Variation in Patients with Developmental Disabilities Including Autism.Current issues in molecular biology · 2026Article
- Molecular genetic testing and cohort analysis of 32 twin pairs with neurodevelopmental disorders-Reporting a novel de novo variant of TET3.Human genomics · 2025Article
- Reanalysis of Chromosomal Microarray Data Using a Smaller Copy Number Variant Call Threshold Identifies Four Cases with Heterozygous Multiexon Deletions of ARID1B, EHMT1, and FOXP1 Genes.Molecular syndromology · 2023Article
- CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder.Journal of autism and developmental disorders · 2023Article
- The diagnostic yield of CGH and WES in neurodevelopmental disorders.Frontiers in pediatrics · 2023Article
- What is autism?Pharmacological reports : PR · 2021Review
- Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders.NPJ genomic medicine · 2021Article
- Article
- An Overview of the Main Genetic, Epigenetic and Environmental Factors Involved in Autism Spectrum Disorder Focusing on Synaptic Activity.International journal of molecular sciences · 2020Review
- Chromosomal Microarray Analysis in Turkish Patients with Unexplained Developmental Delay and Intellectual Developmental Disorders.Noro psikiyatri arsivi · 2020Article
- Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system.Molecular biology reports · 2020Article
- Exon-focused targeted oligonucleotide microarray design increases detection of clinically relevant variants across multiple NHS genomic centres.NPJ genomic medicine · 2020Article
- Whole Genome Low-Coverage Sequencing Concurrently Detecting Copy Number Variations and Their Underlying Complex Chromosomal Rearrangements by Systematic Breakpoint Mapping in Intellectual Deficiency/Developmental Delay Patients.Frontiers in genetics · 2020Article
- From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.Genome medicine · 2019Article
- Homozygous 2p11.2 deletion supports the implication of ELMOD3 in hearing loss and reveals the potential association of CAPG with ASD/ID etiology.Journal of applied genetics · 2019Article
- Review
- Article
- Diagnostic and Therapeutic Misconception: Parental Expectations and Perspectives Regarding Genetic Testing for Developmental Disorders.Journal of autism and developmental disorders · 2019Article
- Copy number variant analysis using genome-wide mate-pair sequencing.Genes, chromosomes & cancer · 2018Article
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1 author.
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Abstract
Chromosomal microarray analysis (CMA) has emerged as a powerful new tool to identify genomic abnormalities associated with a wide range of developmental disabilities including congenital malformations, cognitive impairment, and behavioral abnormalities. CMA includes array comparative genomic hybridization (CGH) and single nucleotide polymorphism (SNP) arrays, both of which are useful for detection of genomic copy number variants (CNV) such as microdeletions and microduplications. The frequency of disease-causing CNVs is highest (20%-25%) in children with moderate to severe intellectual disability accompanied by malformations or dysmorphic features. Disease-causing CNVs are found in 5%-10% of cases of autism, being more frequent in severe phenotypes. CMA has replaced Giemsa-banded karyotype as the first-tier test for genetic evaluation of children with developmental and behavioral disabilities.
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