Article
3q29 duplications: A cohort of 46 patients and a literature review.
American journal of medical genetics. Part A - 1 Jul 2024
Massier Marie, Doco-Fenzy Martine, Egloff Matthieu, Le Guillou Xavier, Le Guyader Gwenaël, Redon Sylvia, Benech Caroline, Le Millier Karine, Uguen Kevin, Ropars Juliette, Sacaze Elise, Audebert-Bellanger Séverine, Apetrei Andreea, Molin Arnaud, Gruchy Nicolas, Vincent-Devulder Aline, Spodenkiewicz Marta, Jacquin Clémence, Loron Gauthier, Thibaud Marie, Delplancq Geoffroy, Brisset Sophie, Lesieur-Sebellin Marion, Malan Valérie, Romana Serge, Rio Marlène, Marlin Sandrine, Amiel Jeanne, Marquet Valentine, Dauriat Benjamin, Moradkhani Kamran, Mercier Sandra, Isidor Bertrand, Arpin Stéphanie, Pujalte Mathilde, Jedraszak Guillaume, Pebrel-Richard Céline, Salaun Gaëlle, Laffargue Fanny, Boudjarane John, Missirian Chantal, Chelloug Nora, Toutain Annick, Chiesa Jean, Keren Boris, Mignot Cyril, Gouy Evan, Jaillard Sylvie, Landais Emilie, Poirsier Céline
Abstract excerpt
Duplications of the 3q29 cytoband are rare chromosomal copy number variations (CNVs) (overlapping or recurrent ~1.6 Mb 3q29 duplications). They have been associated with highly variable neurodevelopmental disorders (NDDs) with various associated features or reported as a susceptibility factor to the development of learning disabilities and neuropsychiatric disorders. The smallest region of overlap and the...
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