First Report of a Small Supernumerary der(8;14) Marker Chromosome

Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes, generally equal in size or smaller than a chromosome 20 of the same metaphase spread. Most of them are unexpectedly detected in routine karyotype analyses, and it is usually not easy to correlate them with a specific clinical picture. A small group of sSMCs is derived from more than one chromosome, called complex sSMCs. Here, we report on a patient with a de novo complex sSMC, derived from chromosomes 8 and 14. Banding karyotype analysis, multiplex ligation-dependent probe amplification (MLPA), single nucleotide polymorphism (SNP)-based array, and fluorescence in situ hybridization (FISH) were performed to investigate its origin. Array and FISH analyses revealed a der(14) t(8;14)(p23.2;q22.1)dn. the propositus presents some clinical features commonly found in patients with partial duplication or triplication of 8p and 14q. This is the first report describing a patient with a congenital der(14) t(8;14)(p23.2;q22.1) dn sSMC. Copyright (C) 2013 S. Karger AG, BaselCoordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Else Kroner-Fresenius-StiftungDAADUniversidade Federal de São Paulo, Dept Morphol & Genet, BR-04023900 São Paulo, BrazilUniv São Paulo, Dept Pathol, Cytogenom Lab, São Paulo, BrazilUniv Jena, Inst Human Genet, Jena Univ Hosp, Jena, GermanyUniversidade Federal de São Paulo, Dept Morphol & Genet, BR-04023900 São Paulo, BrazilCAPES: 2333-11-2FAPESP: 50737-1Else Kroner-Fresenius-Stiftung: 2011_A42Web of Scienc