ArticleJournal of medical genetics1999
Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres.
Article in Journal of medical genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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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.
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Who cites it
19 citing papers in PubMed, 135 citations in OpenAlex.
- Article
- Subtelomeric rearrangements in Indian children with idiopathic intellectual disability/developmental delay: Frequency estimation & clinical correlation using fluorescenceThe Indian journal of medical research · 2016Article
- Chromosomal abnormalities associated with mental retardation in female subjects.Indian journal of human genetics · 2009Article
- Systematic screening for subtelomeric anomalies in a clinical sample of autism.Journal of autism and developmental disorders · 2007Article
- X linked mental retardation: a clinical guide.Journal of medical genetics · 2006Review
- Subtelomeric rearrangements in idiopathic mental retardation.Indian journal of pediatrics · 2005Article
- 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome.American journal of human genetics · 2005Article
- Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.Journal of medical genetics · 2005Article
- Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations.Journal of medical genetics · 2005Article
- Telomeres: a diagnosis at the end of the chromosomes.Journal of medical genetics · 2003Review
- High throughput screening of human subtelomeric DNA for copy number changes using multiplex amplifiable probe hybridisation (MAPH).Journal of medical genetics · 2002Article
- Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience.Journal of medical genetics · 2002Article
- High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization.American journal of human genetics · 2002Article
- Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation.Journal of medical genetics · 2002Article
- Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man.Journal of medical genetics · 2000Article
- Detection of chromosomal aberrations by a whole-genome microsatellite screen.American journal of human genetics · 2000Article
- Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3).American journal of human genetics · 2000Article
- Monosomy 1p36.Journal of medical genetics · 1999Review
- Addressing health disparities through promoting equity for individuals with intellectual disability.Canadian journal of public health = Revue canadienne de sante publiqueReview
Corrections and comments
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Authors and funding
12 authors at 1 institution in 1 country.
Funding
Abstract
Recently much attention has been given to the detection of submicroscopic chromosome rearrangements in patients with idiopathic mental retardation. We have screened 27 subjects with mental retardation and dysmorphic features for such rearrangements using a genetic marker panel screening. The screening was a pilot project using markers from the subtelomeric regions of all 41 chromosome arms. The markers were informative for monosomy in both parents at 3661902 loci (40.6%, 95% confidence interval 37.0-44.2%) in the 22 families where DNA was available from both parents. In two of the 27 subjects, submicroscopic chromosomal aberrations were detected. The first patient had a 5-6 Mb deletion of chromosome 18q and the second patient had a 4 Mb deletion of chromosome 1p. The identification of two deletions in 27 cases gave an aberration frequency of 7.5% without adjustment for marker informativeness (95% confidence interval 1-24%) and an estimated frequency of 18% if marker informativeness for monosomy was taken into account. This frequency is higher than previous estimates of the number of subtelomeric chromosome abnormalities in children with idiopathic mental retardation (5-10%) although the confidence interval is overlapping. Our study suggests that in spite of the low informativeness of this pilot screening, submicroscopic chromosome aberrations may be a common cause of dysmorphic features and mental retardation.
Indexed as
Identifiers
10353788PMC1734367W2117297458What 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.