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

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Date
2012-01-01
Author
Dutra, Ana Rosa Noronha [UNIFESP]
Mancini, Tatiane Iris [UNIFESP]
Takeno, Sylvia Satomi [UNIFESP]
Oliveira, Marcio Moyses de [UNIFESP]
Kim, Chong A.
Perez, Ana Beatriz Alvarez [UNIFESP]
Kulikowski, Leslie Domenici [UNIFESP]
Melaragno, Maria Isabel [UNIFESP]
Type
Artigo
ISSN
1424-8581
Is part of
Cytogenetic and Genome Research
DOI
10.1159/000339566
Metadata
Show full item record
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
Citation
Cytogenetic and Genome Research. Basel: Karger, v. 138, n. 1, p. 1-4, 2012.
Keywords
BAC
Cytogenetic analysis
FISH
Isochromosome 18p
MLPA
SNP array
Tetrasomy
Trisomy
Sponsorship
Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
URI
http://repositorio.unifesp.br/handle/11600/34499
Collections
  • EPM - Artigos [16302]

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