Please use this identifier to cite or link to this item: https://observatorio.fm.usp.br/handle/OPI/6489
Title: Different Conformation of Two Supernumerary 18p Isochromosomes, One with a Concomitant Partial 18q Trisomy
Authors: DUTRA, A. R. NoronhaMANCINI, T. I.TAKENO, S. SATOMIOLIVEIRA, M. MOYSESKIM, C. A.PEREZ, A. B. ALVAREZKULIKOWSKI, L. DOMENICIMELARAGNO, M. I.
Citation: CYTOGENETIC AND GENOME RESEARCH, v.138, n.1, p.1-4, 2012
Abstract: The presence of a supernumerary 18p isochromosome is a rare chromosomal abnormality that results in 18p tetrasomy. This is a report on the clinical, cytogenetic and molecular findings of 2 non-related patients with a supernumerary 18p isochromosome. Both patients present some features of the 18p tetrasomy syndrome (strabismus, low-set ears, long and narrow fingers and toes), but additional characteristics were also observed. Cytogenetic analysis, FISH, MLPA and SNP array techniques showed that one of the isochromosomes is symmetric and monocentric, while the other is asymmetric and dicentric, yet resulting in a similar tetrasomy of the 18pter-18p10 region, followed by a partial 18q11.2 trisomy, an unprecedented finding in the literature. Copyright (C) 2012 S. Karger AG, Basel
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Artigos e Materiais de Revistas Científicas - FM/MPE
Departamento de Pediatria - FM/MPE

Artigos e Materiais de Revistas Científicas - LIM/03
LIM/03 - Laboratório de Medicina Laboratorial

Artigos e Materiais de Revistas Científicas - LIM/36
LIM/36 - Laboratório de Pediatria Clínica


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