ArticleAmerican journal of human genetics2000
Detection of chromosomal aberrations by a whole-genome microsatellite screen.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 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
5 citing papers in PubMed, 45 citations in OpenAlex.
- Molecular Selection, Modification and Development of Therapeutic Oligonucleotide Aptamers.International journal of molecular sciences · 2016Review
- Clinical applications of Genome Polymorphism Scans.Biology direct · 2006Article
- 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
- Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience.Journal of medical genetics · 2002Article
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Authors and funding
13 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Chromosomal aberrations are a common cause of multiple anomaly syndromes that include developmental and growth retardation. Current microscopic techniques are useful for the detection of such aberrations but have a limit of resolution that is above the threshold for phenotypic effect. We hypothesized that a genomewide microsatellite screen could detect chromosomal aberrations that were not detected by standard cytogenetic techniques in a portion of these individuals. To test this hypothesis, we performed a genomewide microsatellite screen of patients, by use of a currently available genetic-marker panel that was originally designed for meiotic mapping of Mendelian traits. We genotyped approximately 400 markers on 17 pairs of parents and their children who had normal karyotypes. By using this approach, we detected and confirmed two cases of segmental aneusomy among 11 children with multiple congenital anomalies. These data demonstrate that a genomewide microsatellite scan can be used to detect chromosomal aberrations that are not detected by microscopic techniques.
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