Article
Genotype-phenotype correlations to aid in the prognosis of individuals with uncommon 20q13.33 subtelomere deletions: a collaborative study on behalf of the 'association des Cytogénéticiens de langue Française'.
European journal of human genetics : EJHG - 1 Apr 2007
Béri-Deixheimer Mylène, Gregoire Marie-José, Toutain Annick, Brochet Karène, Briault Sylvain, Schaff Jean-Luc, Leheup Bruno, Jonveaux Philippe
Abstract excerpt
The identification of subtelomeric rearrangements as a cause of mental retardation has made a considerable contribution to diagnosing patients with mental retardation. It is remarkable that for certain subtelomeric regions, deletions have hardly ever been reported so far. All the laboratories from the 'Association des Cytogénéticiens de Langue Française' were surveyed for cases where an abnormality of the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
