Format

Send to

Choose Destination
See comment in PubMed Commons below
J Med Genet. 2003 Jun;40(6):385-98.

Telomeres: a diagnosis at the end of the chromosomes.

Author information

1
Department of Human Genetics, UMC, St Radboud Hospital, Nijmegen, The Netherlands. b.devries@antrg.umcn.nl

Abstract

In recent years, subtelomeric rearrangements have been identified as a major cause of mental retardation and/or malformation syndromes. So far, over 2500 subjects with mental retardation have been tested and reported of whom approximately 5% appeared to have a subtelomeric rearrangement. In this review, the clinical aspects of each known (submicroscopic) subtelomeric deletion will be presented and the various methods available for detecting subtelomeric abnormalities will be discussed. Not only will the patients and their families benefit from a good collection and report of the various telomeric abnormalities and their clinical phenotype, but it will also give more insight into the aetiology of mental retardation and malformation syndromes.

PMID:
12807958
PMCID:
PMC1735506
[Indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for HighWire Icon for PubMed Central
    Loading ...
    Support Center