Telomeres: a Diagnosis at the End of the Chromosomes

Overview

Journal J Med Genet

Specialty Genetics

Date 2003 Jun 17

PMID 12807958

Citations 48

Authors

B B A de Vries

R Winter

A Schinzel

C van Ravenswaaij-Arts

Affiliations

Soon will be listed here.

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.

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