ArticleEuropean journal of human genetics : EJHG2009
A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first.
Article in European journal of human genetics : EJHG, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 85 citations in OpenAlex.
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- Identifying Genetic Etiology in Patients with Intellectual Disability: An Experience in Public Health Services in Northeastern Brazil.Journal of pediatric genetics · 2024Article
- Detection rates of abnormalities in over 10,000 amniotic fluid samples at a single laboratory.BMC pregnancy and childbirth · 2023Article
- Analysis of copy number variation by sequencing in fetuses with nuchal translucency thickening.Journal of clinical laboratory analysis · 2020Article
- Yield of comparative genomic hybridization microarray in pediatric neurology practice.Neurology. Genetics · 2019Article
- Diagnosis of intellectual disability/global developmental delay via genetic analysis in a central region of China.Chinese medical journal · 2019Article
- Genome-Wide Array Analysis Reveals Novel Genomic Regions and Candidate Gene for Intellectual Disability.Molecular diagnosis & therapy · 2018Article
- Whole-genome sequencing analysis of CNV using low-coverage and paired-end strategies is efficient and outperforms array-based CNV analysis.Journal of medical genetics · 2018Article
- Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience.Clinics (Sao Paulo, Brazil) · 2017Article
- Genomic Microarray in Intellectual Disability: The Usefulness of Existing Systems in the Interpretation of Copy Number Variation.Journal of pediatric genetics · 2017Article
- Chromosomal Microarray Detection of Constitutional Copy Number Variation Using Saliva DNA.The Journal of molecular diagnostics : JMD · 2017Article
- Cryptic de novo deletion at 2q23.3-q24.1 in a patient with intellectual disability.Journal of genetics · 2016Article
- SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay.BMC medical genomics · 2014Article
- De novo 393 kb microdeletion of 7p11.2 characterized by aCGH in a boy with psychomotor retardation and dysmorphic features.Meta gene · 2014Article
- Considering specific clinical features as evidence of pathogenic copy number variants.Journal of applied genetics · 2014Article
- Screening for intellectual disability using high-resolution CMA technology in a retrospective cohort from Central Brazil.PloS one · 2014Article
- Multiplex ligation-dependent probe amplification workflow for the detection of submicroscopic chromosomal abnormalities in patients with developmental delay/intellectual disability.Molecular cytogenetics · 2013Article
- Rare copy number variants are a common cause of short stature.PLoS genetics · 2013Article
- Discovery of variants unmasked by hemizygous deletions.European journal of human genetics : EJHG · 2012Article
- Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics.European journal of human genetics : EJHG · 2012Article
Corrections and comments
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
High-density single-nucleotide polymorphism (SNP) genotyping technology enables extensive genotyping as well as the detection of increasingly smaller chromosomal aberrations. In this study, we assess molecular karyotyping as first-round analysis of patients with mental retardation and/or multiple congenital abnormalities (MR/MCA). We used different commercially available SNP array platforms, the Affymetrix GeneChip 262K NspI, the Genechip 238K StyI, the Illumina HumanHap 300 and HumanCNV 370 BeadChip, to detect copy number variants (CNVs) in 318 patients with unexplained MR/MCA. We found abnormalities in 22.6% of the patients, including six CNVs that overlap known microdeletion/duplication syndromes, eight CNVs that overlap recently described syndromes, 63 potentially pathogenic CNVs (in 52 patients), four large segments of homozygosity and two mosaic trisomies for an entire chromosome. This study shows that high-density SNP array analysis reveals a much higher diagnostic yield as that of conventional karyotyping. SNP arrays have the potential to detect CNVs, mosaics, uniparental disomies and loss of heterozygosity in one experiment. We, therefore, propose a novel diagnostic approach to all MR/MCA patients by first analyzing every patient with an SNP array instead of conventional karyotyping.
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