ReviewAmerican journal of human genetics1993
Detection of cryptic chromosomal abnormalities in unexplained mental retardation: a general strategy using hypervariable subtelomeric DNA polymorphisms.
Review in American journal of human genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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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
9 citing papers in PubMed, 55 citations in OpenAlex.
- Molecular karyotyping using an SNP array for genomewide genotyping.Journal of medical genetics · 2004Article
- Telomeres: a diagnosis at the end of the chromosomes.Journal of medical genetics · 2003Review
- Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis.Journal of medical genetics · 2000Review
- Detection of chromosomal aberrations by a whole-genome microsatellite screen.American journal of human genetics · 2000Article
- Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres.Journal of medical genetics · 1999Article
- A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation.Journal of medical genetics · 1998Article
- Characterization of short tandem repeats from thirty-one human telomeres.Genome research · 1997Article
- Molecular-cytogenetic detection of a deletion of 1p36.3.Journal of medical genetics · 1997Article
- Homosexuality, type 1: an Xq28 phenomenon.Archives of sexual behavior · 1995Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Given the availability of DNA from both parents, unusual segregation of hypervariable DNA polymorphisms (HVPs) in the offspring may be attributable to deletion, unbalanced chromosomal translocation, or uniparental disomy. The telomeric regions of chromosomes are rich in both genes and hypervariable minisatellite sequences and may also be particularly prone to cryptic breakage events. Here I describe and analyze a general approach to the detection of subtelomeric abnormalities and uniparental disomy in patients with unexplained mental retardation. With 29 available polymorphic systems, approximately 50%-70% of these abnormalities could currently be detected. Development of subtelomeric HVPs physically localized with respect to their telomeres should provide a valuable resource in routine diagnostics.
Indexed as
Identifiers
8352277PMC1682421W2121331346What 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.