Trial reportEuropean journal of pediatrics2015
Array-CGH in children with mild intellectual disability: a population-based study.
Trial report in European journal of pediatrics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
11 citing papers in PubMed.
- 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
- Pathogenic Copy Number Variations Involved in the Genetic Etiology of Syndromic and Non-Syndromic Intellectual Disability-Data from a Romanian Cohort.Diagnostics (Basel, Switzerland) · 2022Article
- A Single-Nucleotide Polymorphism in the Promoter of PorcineFrontiers in cell and developmental biology · 2022Article
- Association Between Tic Aggravation and Methylphenidate in Youth With Attention-Deficit/Hyperactivity Disorder.Psychiatry investigation · 2021Article
- Exon 21 deletion in the OPHN1 gene in a family with syndromic X-linked intellectual disability: Case report.Medicine · 2020Article
- 22q13 Microduplication Syndrome in Siblings with Mild Clinical Phenotype: Broadening the Clinical and Behavioral Spectrum.Molecular syndromology · 2020Article
- Copy Number Variations in a Cohort of 420 Individuals with Neurodevelopmental Disorders From the South of Brazil.Scientific reports · 2019Article
- Rare Copy Number Variations and Predictors in Children With Intellectual Disability and Epilepsy.Frontiers in neurology · 2018Article
- Microarray testing in clinical diagnosis: an analysis of 5,300 New Zealand patients.Molecular cytogenetics · 2016Article
- Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients.Molecular cytogenetics · 2015Article
- Optimized Generation of Functional Neutrophils and Macrophages from Patient-Specific Induced Pluripotent Stem Cells: Ex Vivo Models of X(0)-Linked, AR22(0)- and AR47(0)- Chronic Granulomatous Diseases.BioResearch open access · 2014Article
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledIntellectual disability (ID) is characterized by limitation in intellectual function and adaptive behavior, with onset in childhood. Frequent identifiable causes of ID originate from chromosomal imbalances. During the last years, array-CGH has successfully contributed to improve the diagnostic detection rate of genetic abnormalities in patients with ID. Most array-CGH studies focused on patients with moderate or severe intellectual disability. Studies on genetic etiology in children with mild intellectual disability (ID) are very rare. We performed array-CGH analysis in 66 children with mild intellectual disability assessed in a population-based study and for whom no genetic etiology was identified. We found one or more copy number variations (CNVs) in 20 out of 66 (~30 %) patients with a mild ID. In eight of them (~12 %), the CNVs were certainly responsible for the phenotype and in six they were potentially pathogenic for ID. Altogether, array-CGH helped to determine the etiology of ID in 14 patients (~21 %).
conclusionOur results underscore the clinical relevance of array-CGH to investigate the etiology of isolated idiopathic mild ID in patients or associated with even subtle dysmorphic features or congenital malformations.
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