ArticleAnnals of laboratory medicine2018
Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability.
Article in Annals of laboratory medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Diagnostic and clinical utility of exome sequencing and chromosomal microarray in children with GDD/iD: a meta-analysis.Annals of medicine · 2026Pooled it
- Article
- Diagnostic Approach to Children with Unexplained Global Developmental Delay in Pediatric Neurology Outpatient Clinic.Neuropediatrics · 2025Observational
- Trio-whole exome sequencing reveals the importance of de novo variants in children with intellectual disability and developmental delay.Scientific reports · 2024Article
- Diagnostic and prognostic role of soft ultrasound markers in prenatal detection and assessment of foetal abnormalities.Przeglad menopauzalny = Menopause review · 2024Review
- Epigenomic newborn screening for conditions with intellectual disability and autistic features in Australian newborns.Epigenomics · 2024Article
- Deviation scores: An innovative approach to interpreting cognitive test results for individuals with intellectual disabilities.Journal of applied research in intellectual disabilities : JARID · 2023Review
- Novel maternal duplication of 6p22.3-p25.3 with subtelomeric 6p25.3 deletion: new clinical findings and genotype-phenotype correlations.Molecular cytogenetics · 2023Article
- Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age.Advanced genetics (Hoboken, N.J.) · 2023Article
- Copy number variation analysis in 189 Romanian patients with global developmental delay/intellectual disability.Italian journal of pediatrics · 2022Article
- Article
- Diagnostic Value of Microarray Method in Autism Spectrum Disorder, Intellectual Disability, and Multiple Congenital Anomalies and Some Candidate Genes for Autism: Experience of Two Centers.Medeniyet medical journal · 2022Article
- Chromosomal microarray in postnatal diagnosis of congenital anomalies and neurodevelopmental disorders in Serbian patients.Journal of clinical laboratory analysis · 2022Article
- Bioactive phytoconstituents as potent inhibitors of casein kinase-2: dual implications in cancer and COVID-19 therapeutics.RSC advances · 2022Article
- Clinical Application of Sequential Epigenetic Analysis for Diagnosis of Silver-Russell Syndrome.Annals of laboratory medicine · 2021Article
- Article
- Improving diagnostics of rare genetic diseases with NGS approaches.Journal of community genetics · 2021Article
- Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders.NPJ genomic medicine · 2021Article
- Genetic Factors Underlying Sudden Infant Death Syndrome.The application of clinical genetics · 2021Review
- Chromosomal Microarray Analysis Has a Poor Diagnostic Yield in Children with Developmental Delay/Intellectual Disability When Concurrent Cerebellar Anomalies Are Present.Cerebellum (London, England) · 2020Article
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundChromosomal microarray (CMA) testing is a first-tier test for patients with developmental delay, autism, or congenital anomalies. It increases diagnostic yield for patients with developmental delay or intellectual disability. In some countries, including Korea, CMA testing is not yet implemented in clinical practice. We assessed the diagnostic utility of CMA testing in a large cohort of patients with developmental delay or intellectual disability in Korea.
methodsWe conducted a genome-wide microarray analysis of 649 consecutive patients with developmental delay or intellectual disability at the Seoul National University Children's Hospital. Medical records were reviewed retrospectively. Pathogenicity of detected copy number variations (CNVs) was evaluated by referencing previous reports or parental testing using FISH or quantitative PCR.
resultsWe found 110 patients to have pathogenic CNVs, which included 100 deletions and 31 duplications of 270 kb to 30 Mb. The diagnostic yield was 16.9%, demonstrating the diagnostic utility of CMA testing in clinic. Parental testing was performed in 66 patients, 86.4% of which carried de novo CNVs. In eight patients, pathogenic CNVs were inherited from healthy parents with a balanced translocation, and genetic counseling was provided to these families. We verified five rarely reported deletions on 2p21p16.3, 3p21.31, 10p11.22, 14q24.2, and 21q22.13.
conclusionsThis study demonstrated the clinical utility of CMA testing in the genetic diagnosis of patients with developmental delay or intellectual disability. CMA testing should be included as a clinical diagnostic test for all children with developmental delay or intellectual disability.
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