ArticleJournal of medical genetics1998
A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation.
Article in Journal of medical genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 64 citations in OpenAlex.
- "Familial" versus "sporadic" intellectual disability: contribution of subtelomeric rearrangements.Molecular cytogenetics · 2012Article
- Preimplantation genetic diagnosis: present and future.Journal of assisted reproduction and genetics · 2007Review
- Automated array-CGH optimized for archival formalin-fixed, paraffin-embedded tumor material.BMC cancer · 2007Article
- High-resolution analysis of DNA copy number using oligonucleotide microarrays.Genome research · 2004Article
- Telomeres: a diagnosis at the end of the chromosomes.Journal of medical genetics · 2003Review
- Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation.Journal of medical genetics · 2002Article
- Detection of chromosomal aberrations by a whole-genome microsatellite screen.American journal of human genetics · 2000Article
- Applications of comparative genomic hybridisation in constitutional chromosome studies.Journal of medical genetics · 1999Article
- Mosaic supernumerary ring chromosome 19 identified by comparative genomic hybridisation.Journal of medical genetics · 1998Article
- Recurrence risks in mental retardation.Journal of medical genetics · 1998Review
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cryptic unbalanced chromosome rearrangements in the telomeric bands of human chromosomes constitute a significant cause of "idiopathic" mental retardation. Here, we have described a new strategy based upon comparative genomic hybridisation (CGH) to screen for these abnormalities. A modified CGH analysis showed three unbalanced cryptic rearrangements in five patients from three families. These chromosome abnormalities and their balanced forms in the relatives were then confirmed by fluorescence in situ hybridisation (FISH). This study describes a new approach to the diagnosis of cryptic translocations between the G band negative ends of chromosomes and confirms the significant contribution of cryptic telomeric rearrangements to idiopathic mental retardation.
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