Fiche publication
Date publication
mars 2009
Auteurs
Membres identifiés du Cancéropôle Est :
Dr GUERIN Eric
Tous les auteurs :
Carelle-Calmels N, Saugier-Veber P, Girard-Lemaire F, Rudolf G, Doray B, Guerin E, Kuhn P, Arrive M, Gilch C, Schmitt E, Fehrenbach S, Schnebelen A, Frebourg T, Flori E
Lien Pubmed
Résumé
Cytogenetic studies of the parents of a girl with the DiGeorge (or velocardiofacial) syndrome, who carried a deletion at 22q11.2, revealed an unexpected rearrangement of both 22q11.2 regions in the unaffected father. He carried a 22q11.2 deletion on one copy of chromosome 22 and a reciprocal 22q11.2 duplication on the other copy of chromosome 22. Genetic compensation, which is consistent with the normal phenotype of the father, was shown through quantitative-expression analyses of genes located within the genetic region associated with the DiGeorge syndrome. This finding has implications for genetic counseling and represents a case of genetic compensation in a human genomic disorder.
Référence
N Engl J Med. 2009 Mar 19;360(12):1211-6.
