Please use this identifier to cite or link to this item: https://observatorio.fm.usp.br/handle/OPI/2448
Title: First Report of a Small Supernumerary der(8;14) Marker Chromosome
Authors: GUILHERME, R. S.DUTRA, A. R. N.PEREZ, A. B. A.TAKENO, S. S.OLIVEIRA, M. M.KULIKOWSKI, L. D.KLEIN, E.HAMID, A. B.LIEHR, T.MELARAGNO, M. I.
Citation: CYTOGENETIC AND GENOME RESEARCH, v.139, n.4, p.284-288, 2013
Abstract: 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.
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