ArticleNature genetics1995
The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation.
Article in Nature genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 99 papers, 1 of them a synthesis that pooled it.
What it found
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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
99 citing papers in PubMed, 1 synthesis or guideline pooled it, 508 citations in OpenAlex.
- American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation.Genetics in medicine : official journal of the American College of Medical GeneticsGuideline
- Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis.Human genetics · 2012Trial
- Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype.Prenatal diagnosis · 2009Trial
- Review
- A Cytogenetic Study of Turkish Children with Global Developmental Delay.Journal of pediatric genetics · 2024Article
- PhaseDancer: a novel targeted assembler of segmental duplications unravels the complexity of the human chromosome 2 fusion going from 48 to 46 chromosomes in hominin evolution.Genome biology · 2023Article
- Complex 4q35 and 10q26 Rearrangements: A Challenge for Molecular Diagnosis of Patients With Facioscapulohumeral Dystrophy.Neurology. Genetics · 2023Article
- The Genetics of Intellectual Disability.Brain sciences · 2023Review
- Association of SHANK Family with Neuropsychiatric Disorders: An Update on Genetic and Animal Model Discoveries.Cellular and molecular neurobiology · 2022Review
- An ethical analysis of divergent clinical approaches to the application of genetic testing for autism and schizophrenia.Human genetics · 2022Article
- Phelan-McDermid syndrome: a classification system after 30 years of experience.Orphanet journal of rare diseases · 2022Article
- Prenatal diagnosis of a 4.5-Mb deletion at chromosome 4q35.1q35.2: Case report and literature review.Molecular cytogenetics · 2021Article
- Telomeres and genomic evolution.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2018Review
- Diagnostics of common microdeletion syndromes using fluorescence in situ hybridization: single center experience in a developing country.Bosnian journal of basic medical sciences · 2016Article
- Molecular cytogenetic analysis of telomere rearrangements.Current protocols in human genetics · 2015Article
- Evolution of genetic techniques: past, present, and beyond.BioMed research international · 2015Review
- Genomic characterization of some Iranian children with idiopathic mental retardation using array comparative genomic hybridization.Indian journal of human genetics · 2013Article
- Identification of Chromosome Abnormalities in Subtelomeric Regions Using Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 Iranian Patients With Idiopathic Mental Retardation.Iranian Red Crescent medical journal · 2013Article
- Fluorescence in situ hybridization (FISH) using non-commercial probes in the diagnosis of clinically suspected microdeletion syndromes.The Indian journal of medical research · 2013Article
- The molecular basis of α-thalassemia.Cold Spring Harbor perspectives in medicine · 2013Article
39 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
A major challenge for human genetics is to identify new causes of mental retardation, which, although present in about 3% of individuals, is unexplained in more than half of all cases. We have developed a strategy to screen for the abnormal inheritance of subtelomeric DNA polymorphisms in individuals with mental retardation and have detected three abnormalities in 99 patients with normal routine karyotypes. Pulsed-field gel electrophoresis and reverse chromosome painting showed that one case arose from an interstitial or terminal deletion and two from the de novo inheritance of derivative translocation chromosomes. At least 6% of unexplained mental retardation is accounted for by these relatively small chromosomal abnormalities, which will be an important resource in the characterization of the genetic basis of neurodevelopment.
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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.