ArticleJournal of medical genetics2002
Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation.
Article in Journal of medical genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 75 citations in OpenAlex.
- Genomic imbalance in subjects with idiopathic intellectual disability detected by multiplex ligation-dependent probe amplification.Journal of genetics · 2016Article
- Refining the phenotype associated with CASC5 mutation.Neurogenetics · 2016Article
- "Familial" versus "sporadic" intellectual disability: contribution of subtelomeric rearrangements.Molecular cytogenetics · 2012Article
- Screening of subtelomeric rearrangements in 100 Korean Pediatric patients with unexplained mental retardation and anomalies using subtelomeric FISH (fluorescence in situ hybridization).Journal of Korean medical science · 2008Article
- Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre.BMC medical genetics · 2007Article
- Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter.BMC medical genetics · 2005Article
- A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation.BMC medical genetics · 2004Article
- A multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation and behaviour disorder characterised comprehensively by molecular cytogenetics. Case report and review of the literature.European journal of pediatrics · 2003Review
- Telomeres: a diagnosis at the end of the chromosomes.Journal of medical genetics · 2003Review
Corrections and comments
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Authors and funding
17 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recent studies have shown that cryptic unbalanced subtelomeric rearrangements contribute to a significant proportion of idiopathic syndromic mental retardation cases. Using a fluorescent genotyping based strategy, we found a 10% rate of cryptic subtelomeric rearrangements in a large series of 150 probands with severe idiopathic syndromic mental retardation and normal RHG-GTG banded karyotype. Fourteen children were found to carry deletions or duplications of one or more chromosome telomeres and two children had uniparental disomy. This study clearly shows that fluorescent genotyping is a sensitive and cost effective method that not only detects cryptic subtelomeric rearrangements but also provides a unique opportunity to detect uniparental disomies. We suggest giving consideration to systematic examination of subtelomeric regions in the diagnostic work up of patients with unexplained syndromic mental retardation.
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