ArticleJournal of medical genetics2004
Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features.
Article in Journal of medical genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 149 papers, 1 of them a synthesis that pooled it.
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Who cites it
149 citing papers in PubMed, 1 synthesis or guideline pooled it, 508 citations in OpenAlex.
- The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature.Prenatal diagnosis · 2013Pooled it
- Prenatal diagnosis and molecular cytogenetic analysis of Xp22.31 microdeletions and microduplications in Chinese populations.BMC pregnancy and childbirth · 2026Article
- Late Diagnosis of a 3p26.3p25.2 Microduplication in a Young Adult with Mild Neurodevelopmental Features: A Case Report and Literature Review.Molecular syndromology · 2026Article
- Comparative Genomic Hybridization (CGH) in Genotoxicology: From the Basics to Modern Approaches.Methods in molecular biology (Clifton, N.J.) · 2026Review
- SVseq discloses the genomic complexity of different prenatal, de novo, apparently balanced chromosome rearrangements detected by CMA and karyotype.Italian journal of pediatrics · 2025Article
- Establishment of a Visual Gene Chip Method for the Simultaneous Detection of Seven Waterfowl Virus Pathogens.Viruses · 2025Article
- Diagnostic and prognostic role of soft ultrasound markers in prenatal detection and assessment of foetal abnormalities.Przeglad menopauzalny = Menopause review · 2024Review
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- DNA Methylation Episignatures in Neurodevelopmental Disorders Associated with Large Structural Copy Number Variants: Clinical Implications.International journal of molecular sciences · 2022Review
- Article
- Progress in Methods for Copy Number Variation Profiling.International journal of molecular sciences · 2022Review
- Advancing precision medicines for ocular disorders: Diagnostic genomics to tailored therapies.Frontiers in medicine · 2022Review
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- A Reassessment of Copy Number Variations in Congenital Heart Defects: Picturing the Whole Genome.Genes · 2021Article
- Review
- COVID-19 Diagnostic Strategies. Part I: Nucleic Acid-Based Technologies.Bioengineering (Basel, Switzerland) · 2021Review
- Systematic identification of genetic systems associated with phenotypes in patients with rare genomic copy number variations.Human genetics · 2021Article
- Integrated analysis revealing genome-wide chromosomal copy number variation in supraglottic laryngeal squamous cell carcinoma.Oncology letters · 2020Article
- Article
89 more citing papers are in PubMed but not listed here.
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Authors and funding
12 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The underlying causes of learning disability and dysmorphic features in many patients remain unidentified despite extensive investigation. Routine karyotype analysis is not sensitive enough to detect subtle chromosome rearrangements (less than 5 Mb). The presence of subtle DNA copy number changes was investigated by array-CGH in 50 patients with learning disability and dysmorphism, employing a DNA microarray constructed from large insert clones spaced at approximately 1 Mb intervals across the genome. Twelve copy number abnormalities were identified in 12 patients (24% of the total): seven deletions (six apparently de novo and one inherited from a phenotypically normal parent) and five duplications (one de novo and four inherited from phenotypically normal parents). Altered segments ranged in size from those involving a single clone to regions as large as 14 Mb. No recurrent deletion or duplication was identified within this cohort of patients. On the basis of these results, we anticipate that array-CGH will become a routine method of genome-wide screening for imbalanced rearrangements in children with learning disability.
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