Article
Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review.
American journal of medical genetics. Part A - 1 Jun 2015
El Khattabi Laïla, Jaillard Sylvie, Andrieux Joris, Pasquier Laurent, Perrin Laurence, Capri Yline, Benmansour Abdelmadjid, Toutain Annick, Marcorelles Pascale, Vincent-Delorme Catherine, Journel Hubert, Henry Catherine, De Barace Claire, Devisme Louise, Dubourg Christèle, Demurger Florence, Lucas Josette, Belaud-Rotureau Marc-Antoine, Amiel Jeanne, Malan Valérie, De Blois Marie-Christine, De Pontual Loïc, Lebbar Aziza, Le Dû Nathalie, Germain Dominique P, Pinard Jean-Marc, Pipiras Eva, Tabet Anne-Claude, Aboura Azzedine, Verloes Alain
Abstract excerpt
Tetrasomy 9p is a generic term describing the presence of a supernumerary chromosome incorporating two copies of the 9p arm. Two varieties exist: isodicentric chromosome 9p (i(9p)), where the two 9p arms are linked by a single centromeric region, and pseudodicentric 9p (idic(9p)), where one active and one inactive centromere are linked together by a proximal segment of 9q that may incorporate euchromatic...
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