ArticleScientific reports2023
Combining chromosomal microarray and clinical exome sequencing for genetic diagnosis of intellectual disability.
Article in Scientific reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 10 citations in OpenAlex.
- Diagnostic and clinical utility of exome sequencing and chromosomal microarray in children with GDD/iD: a meta-analysis.Annals of medicine · 2026Pooled it
- Screening, Diagnosis, and Investigation of Global Developmental Delay and Intellectual Developmental Disorder.Cureus · 2025Article
- A 30-Year Experience in Fragile X Syndrome Molecular Diagnosis from a Laboratory in Thailand.International journal of molecular sciences · 2025Article
- Karyotyping with amniotic fluid in 6,572 pregnant women and pregnancy outcomes--A single-center retrospective study.PloS one · 2025Article
- Genetics of Cerebral Palsy: Diagnosis, Differential Diagnosis, and Beyond.Annals of rehabilitation medicine · 2024Article
- Diagnostic Yield of Trio Whole-Genome Sequencing in Children with Undiagnosed Developmental Delay or Congenital Anomaly: A Prospective Cohort Study.Diagnostics (Basel, Switzerland) · 2024Article
- Analysis of parental origin of de novo pathogenic CNVs in patients with intellectual disability.Genetics and molecular biology · 2024Article
- Clinical application of chromosome microarray analysis and karyotyping in prenatal diagnosis in Northwest China.Frontiers in genetics · 2024Article
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Despite the current widespread use of chromosomal microarray analysis (CMA) and exome/genome sequencing for the genetic diagnosis of unexplained intellectual disability (ID) in children, gaining improved diagnostic yields and defined guidelines remains a significant challenge. This is a cohort study of children with unexplained ID. We analyzed the diagnostic yield and its correlation to clinical phenotypes in children with ID who underwent concurrent CMA and clinical exome sequencing (CES). A total of 154 children were included (110 [71.4%] male; mean [SD] age, 51.9 [23.1] months). The overall diagnosis yield was 26.0-33.8%, with CMA contributing 12.3-14.3% and CES contributing 13.6-19.4%, showing no significant difference. The diagnostic rate was significantly higher when gross motor delay (odds ratio, 6.69; 95% CI, 3.20-14.00; P < 0.001), facial dysmorphism (odds ratio, 9.34; 95% CI 4.29-20.30; P < 0.001), congenital structural anomaly (odds ratio 3.62; 95% CI 1.63-8.04; P = 0.001), and microcephaly or macrocephaly (odds ratio 4.87; 95% CI 2.05-11.60; P < 0.001) were presented. Patients with only ID without any other concomitant phenotype (63/154, 40.9%) exhibited a 6.3-11.1% diagnostic rate.
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