ArticleJournal of medical genetics2006
Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents.
Article in Journal of medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01043198 (Phenotypic Characterization and Array CGH Analysis in Patients With Syndromic Obesity of Unknown Etiology), which is not on this map. Cited by 55 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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.
Phenotypic Characterization and Array CGH Analysis in Patients With Syndromic Obesity of Unknown Etiology
Who cites it
55 citing papers in PubMed, 237 citations in OpenAlex.
- Identifying Genetic Etiology in Patients with Intellectual Disability: An Experience in Public Health Services in Northeastern Brazil.Journal of pediatric genetics · 2024Article
- Rare CNVs and Known Genes Linked to Macrocephaly: Review of Genomic Loci and Promising Candidate Genes.Genes · 2022Review
- Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil.Scientific reports · 2022Article
- Clinical Implications of Chromosome 16 Copy Number Variation.Molecular syndromology · 2022Article
- A familial 3q28q29 duplication induced mild intellectual disability: case presentation and literature review.American journal of translational research · 2022Article
- Review
- Activation of the ISR mediates the behavioral and neurophysiological abnormalities in Down syndrome.Science (New York, N.Y.) · 2019Article
- Genomic imbalances defining novel intellectual disability associated loci.Orphanet journal of rare diseases · 2019Article
- Refining the Phenotype of Recurrent Rearrangements of Chromosome 16.International journal of molecular sciences · 2019Article
- Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience.Clinics (Sao Paulo, Brazil) · 2017Article
- Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies.Genomics & informatics · 2017Article
- Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: a case report.Journal of medical case reports · 2016Article
- 16p11.2 Deletion mice display cognitive deficits in touchscreen learning and novelty recognition tasks.Learning & memory (Cold Spring Harbor, N.Y.) · 2015Article
- 16p11.2 Deletion Syndrome Mice Display Sensory and Ultrasonic Vocalization Deficits During Social Interactions.Autism research : official journal of the International Society for Autism Research · 2015Article
- Article
- Genomic characterization of some Iranian children with idiopathic mental retardation using array comparative genomic hybridization.Indian journal of human genetics · 2013Article
- Simple, rapid and inexpensive quantitative fluorescent PCR method for detection of microdeletion and microduplication syndromes.PloS one · 2013Article
- Mental retardation and autism associated with recurrent 16p11.2 microdeletion: incomplete penetrance and variable expressivity.Journal of applied genetics · 2011Article
- Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes.European journal of human genetics : EJHG · 2011Article
- Use of array genomic hybridization technology for constitutional genetic diagnosis in Canada.Paediatrics & child health · 2011Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 4 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe underlying causes of mental retardation remain unknown in about half the cases. Recent array-CGH studies demonstrated cryptic imbalances in about 25% of patients previously thought to be chromosomally normal. OBJECTIVE AND
methodsArray-CGH with approximately 3500 large insert clones spaced at approximately 1 Mb intervals was used to investigate DNA copy number changes in 81 mentally impaired individuals.
resultsImbalances never observed in control chromosomes were detected in 20 patients (25%): seven were de novo, nine were inherited, and four could not have their origin determined. Six other alterations detected by array were disregarded because they were shown by FISH either to hybridise to both homologues similarly in a presumptive deletion (one case) or to involve clones that hybridised to multiple sites (five cases). All de novo imbalances were assumed to be causally related to the abnormal phenotypes. Among the others, a causal relation between the rearrangements and an aberrant phenotype could be inferred in six cases, including two imbalances of the X chromosome, where the associated clinical features segregated as X linked recessive traits.
conclusionsIn all, 13 of 81 patients (16%) were found to have chromosomal imbalances probably related to their clinical features. The clinical significance of the seven remaining imbalances remains unclear. The limited ability to differentiate between inherited copy number variations which cause abnormal phenotypes and rare variants unrelated to clinical alterations currently constitutes a limitation in the use of CGH-microarray for guiding genetic counselling.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.