ArticleBMC medical genomics2018
Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions.
Article in BMC medical genomics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed.
- Profiling the developmental signatures of genetic global developmental delay.Pediatric research · 2025Article
- The diagnostic yield of molecular karyotyping: a retrospective single-center study.Croatian medical journal · 2025Article
- A cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD.Scientific reports · 2024Article
- Combining chromosomal microarray and clinical exome sequencing for genetic diagnosis of intellectual disability.Scientific reports · 2023Article
- Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG).Journal of medical genetics · 2023Article
- Genetic Testing in Children with Developmental and Epileptic Encephalopathies: A Review of Advances in Epilepsy Genomics.Children (Basel, Switzerland) · 2023Review
- Evaluation of Individuals with Non-Syndromic Global Developmental Delay and Intellectual Disability.Children (Basel, Switzerland) · 2023Review
- Copy number variation analysis in 189 Romanian patients with global developmental delay/intellectual disability.Italian journal of pediatrics · 2022Article
- Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.International journal of molecular sciences · 2022Article
- Chromosomal microarray analysis of 410 Han Chinese patients with autism spectrum disorder or unexplained intellectual disability and developmental delay.NPJ genomic medicine · 2022Article
- CNV profiles of Chinese pediatric patients with developmental disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Genetic Testing in Neurodevelopmental Disorders.Frontiers in pediatrics · 2021Review
- Detection of Copy Number Variants by Short Multiply Aggregated Sequence Homologies.The Journal of molecular diagnostics : JMD · 2020Article
- 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
- The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing.BMC medical genomics · 2020Article
- Genome-Wide Sequencing for Unexplained Developmental Disabilities or Multiple Congenital Anomalies: A Health Technology Assessment.Ontario health technology assessment series · 2020Article
- Prenatal Diagnosis of BACs-on-Beads Assay in 3647 Cases of Amniotic Fluid Cells.Reproductive sciences (Thousand Oaks, Calif.) · 2019Article
- Rare Copy Number Variations in a Chinese Cohort of Autism Spectrum Disorder.Frontiers in genetics · 2018Article
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Authors and funding
20 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDevelopmental delay (DD) and intellectual disability (ID) are frequently associated with a broad spectrum of additional phenotypes. Chromosomal microarray analysis (CMA) has been recommended as a first-tier test for DD/ID in general, whereas the diagnostic yield differs significantly among DD/ID patients with different comorbid conditions.
methodsTo investigate the genotype-phenotype correlation, we examined the characteristics of identified pathogenic copy number variations (pCNVs) and compared the diagnostic yields among patient subgroups with different co-occurring conditions.
resultsThis study is a retrospective review of CMA results generated from a mixed cohort of 710 Chinese patients with DD/ID. A total of 247 pCNVs were identified in 201 patients (28%). A large portion of these pCNVs were copy number losses, and the size of copy number losses was generally smaller than gains. The diagnostic yields were significantly higher in subgroups with co-occurring congenital heart defects (55%), facial dysmorphism (39%), microcephaly (34%) or hypotonia (35%), whereas co-occurring conditions of skeletal malformation (26%), brain malformation (24%) or epilepsy (24%) did not alter the yield. In addition, the diagnostic yield nominally correlated with ID severity.
conclusionVaried yields exist in DD/ID patients with different phenotypic presentation. The presence of comorbid conditions can be among factors to consider when planning CMA.
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