Fiche publication
Date publication
février 2026
Journal
Journal of medical genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr CALLIER Patrick
,
Pr FAIVRE Laurence
Tous les auteurs :
Coudert A, Le Tanno P, Dufour W, Edery P, Jacquette A, Delplancq G, Chambon P, Missirian C, Caumes R, Faivre L, Callier P, Mosca AL, Marle N, Geneviève D, Lacombe D, Pebrel-Richard C, Redon S, Touraine R, Fradin M, Odent S, Pasquier L, Guichet A, Mercier S, Nizon M, Isidor B, Vincent M, Le Guillou Horn XM, Egloff M, Schaefer E, Guerrot AM, Ruaud L, Chemaly N, Nadeau G, Coutton C, Dieterich K
Lien Pubmed
Résumé
Potocki-Lupski syndrome (PTLS) is a rare genetic disorder, with an estimated prevalence of 1:25 000. Detection of a duplication at position 17p11.2 comprising the gene establishes the diagnosis. Deletion of this same region is responsible for Smith-Magenis syndrome (SMS). Hitherto, the non-specific clinical features included psychomotor and growth retardation and multiple congenital anomalies. Our aim was to further delineate the clinical spectrum of PLTS.
Mots clés
Cytogenetics, Gene Duplication, Genetics, Medical, Mental Disorders, Phenotype
Référence
J Med Genet. 2026 02 24;:
