Article
A rare case of trisomy 15pter-q21.2 due to a de novo marker chromosome.
American journal of medical genetics. Part A - 1 Mar 2010
Pacanaro Ade Nubia Xavier, Christofolini Denise Maria, Kulikowski Leslie Domenici, Belangero Sintia Iole Nogueira, da Silva Bellucco Fernanda Teixeira, Varela Monica C, Koiffmann Celia P, Yoshimoto Maisa, Squire Jeremy A, Schiavon Adriana V, Heck Benjamin, Melaragno Maria Isabel
Abstract excerpt
Supernumerary marker chromosomes (sSMC) may or may not be associated with an abnormal phenotype, depending on the presence of euchromatin, on their chromosomal origin and whether they are inherited. Over 80% of sSMCs are derived from acrocentric chromosomes and half of them include the short arm of chromosome 15. Generally, they appear as bisatellited isodicentric marker chromosomes, most of them are symmetric....
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