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Title: Different Conformation of Two Supernumerary 18p Isochromosomes, One with a Concomitant Partial 18q Trisomy
Authors: 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]
Universidade Federal de São Paulo (UNIFESP)
Universidade de São Paulo (USP)
Keywords: BAC
Cytogenetic analysis
Isochromosome 18p
SNP array
Issue Date: 1-Jan-2012
Publisher: Karger
Citation: Cytogenetic and Genome Research. Basel: Karger, 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
ISSN: 1424-8581
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