Article
Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literature.
American journal of medical genetics. Part A - 1 Sept 2010
Kleefstra Tjitske, de Leeuw Nicole, Wolf Roy, Nillesen Willy M, Schobers Gaby, Mieloo Hanneke, Willemsen Marjolein, Perrotta Concetta Simona, Poddighe Pino J, Feenstra Ilse, Draaisma Jos, van Ravenswaaij-Arts Conny M A
Abstract excerpt
Supernumerary marker chromosomes (SMC) originating from chromosome 15 are the most common SMCs. They encompass clinically irrelevant SMC(15)s containing only heterochromatin and 15p material, and clinically relevant SMC(15)s that consist of both eu- and heterochromatic 15q material. On the basis of size, the clinically relevant SMC(15)s can be subdivided into type A, "large" asymmetric and type B, "small"...
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