Article
Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature.
American journal of medical genetics. Part A - 1 Jan 2015
Nizon Mathilde, Andrieux Joris, Rooryck Caroline, de Blois Marie-Christine, Bourel-Ponchel Emilie, Bourgois Béatrice, Boute Odile, David Albert, Delobel Bruno, Duban-Bedu Bénédicte, Giuliano Fabienne, Goldenberg Alice, Grotto Sarah, Héron Delphine, Karmous-Benailly Houda, Keren Boris, Lacombe Didier, Lapierre Jean-Michel, Le Caignec Cédric, Le Galloudec Eric, Le Merrer Martine, Le Moing Anne-Gaëlle, Mathieu-Dramard Michèle, Nusbaum Sylvie, Pichon Olivier, Pinson Lucile, Raoul Odile, Rio Marlène, Romana Serge, Roubertie Agnès, Colleaux Laurence, Turleau Catherine, Vekemans Michel, Nabbout Rima, Malan Valérie
Abstract excerpt
Array comparative genomic hybridization (array CGH) has proven its utility in uncovering cryptic rearrangements in patients with X-linked intellectual disability. In 2009, Giorda et al. identified inherited and de novo recurrent Xp11.23p11.22 microduplications in two males and six females from a wide cohort of patients presenting with syndromic intellectual disability. To date, 14 females and 5 males with an...
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