Different Conformation of Two Supernumerary 18p Isochromosomes, One with a Concomitant Partial 18q Trisomy

Different Conformation of Two Supernumerary 18p Isochromosomes, One with a Concomitant Partial 18q Trisomy

Author Dutra, Ana Rosa Noronha Autor UNIFESP Google Scholar
Mancini, Tatiane Iris Autor UNIFESP Google Scholar
Takeno, Sylvia Satomi Autor UNIFESP Google Scholar
Oliveira, Marcio Moyses de Autor UNIFESP Google Scholar
Kim, Chong A. Google Scholar
Perez, Ana Beatriz Alvarez Autor UNIFESP Google Scholar
Kulikowski, Leslie Domenici Autor UNIFESP Google Scholar
Melaragno, Maria Isabel Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Universidade de São Paulo (USP)
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
Keywords BAC
Cytogenetic analysis
FISH
Isochromosome 18p
MLPA
SNP array
Tetrasomy
Trisomy
Language English
Sponsor Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Grant number FAPESP: 10/50737-1
Date 2012-01-01
Published in Cytogenetic and Genome Research. Basel: Karger, v. 138, n. 1, p. 1-4, 2012.
ISSN 1424-8581 (Sherpa/Romeo, impact factor)
Publisher Karger
Extent 1-4
Origin http://dx.doi.org/10.1159/000339566
Access rights Closed access
Type Article
Web of Science ID WOS:000308976400001
URI http://repositorio.unifesp.br/handle/11600/34499

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