ArticleMolecular cytogenetics2014
Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohort.
Article in Molecular cytogenetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 44 citations in OpenAlex.
- Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort.Scientific reports · 2017Trial
- Identifying Genetic Etiology in Patients with Intellectual Disability: An Experience in Public Health Services in Northeastern Brazil.Journal of pediatric genetics · 2024Article
- 8p21.3 deletions are rare causes of non-syndromic autism spectrum disorder.Neurogenetics · 2021Article
- Factors Affecting Family Compliance with Genetic Testing of Children Diagnosed with Autism Spectrum Disorder.Journal of autism and developmental disorders · 2021Article
- The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing.BMC medical genomics · 2020Article
- Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Artificial intelligence for precision medicine in neurodevelopmental disorders.NPJ digital medicine · 2019Review
- Clinical Application of Chromosome Microarray Analysis in Han Chinese Children with Neurodevelopmental Disorders.Neuroscience bulletin · 2018Article
- A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.American journal of medical genetics. Part A · 2018Article
- Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability.Annals of laboratory medicine · 2018Article
- Copy number variants implicate cardiac function and development pathways in earthquake-induced stress cardiomyopathy.Scientific reports · 2018Article
- Phenotypic Analysis of Korean Patients with Abnormal Chromosomal Microarray in Patients with Unexplained Developmental Delay/Intellectual Disability.Yonsei medical journal · 2018Article
- Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies.Italian journal of pediatrics · 2018Article
- Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.Scientific reports · 2017Article
- High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.Scientific reports · 2017Article
- Article
- Management of Severe Developmental Regression in an Autistic Child with a 1q21.3 Microdeletion and Self-Injurious Blindness.Case reports in psychiatry · 2017Article
- Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients.Human genomics · 2015Article
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundChromosomal microarray (CMA) is currently the first-tier genetic test for patients with idiopathic neuropsychiatric diseases in many countries. Its improved diagnostic yield over karyotyping and other molecular testing facilitates the identification of the underlying causes of neuropsychiatric diseases. In this study, we applied oligonucleotide array comparative genomic hybridization as the molecular genetic test in a Chinese cohort of children with DD/ID, autism or MCA.
resultsCMA identified 7 clinically significant microduplications and 17 microdeletions in 19.0% (20/105) patients, with size of aberrant regions ranging from 11 kb to 10.7 Mb. Fourteen of the pathogenic copy number variant (CNV) detected corresponded to well known microdeletion or microduplication syndromes. Four overlapped with critical regions of recently identified genomic syndromes. We also identified a rare de novo 2.3 Mb deletion at 8p21.3-21.2 as a pathogenic submicroscopic CNV. We also identified two novel CNVs, one at Xq28 and the other at 12q21.31-q21.33, in two patients (1.9%) with unclear clinical significance. Overall, the detection rate of CMA is comparable to figures previously reported for accurately detect submicroscopic chromosomal imbalances and pathogenic CNVs except mosaicism, balanced translocation and inversion.
conclusionsThis study provided further evidence of an increased diagnostic yield of CMA and supported its use as a first line diagnostic tool for Chinese individuals with DD/ID, ASD, and MCA.
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