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

dc.contributorUniversidade Federal de São Paulo (UNIFESP)
dc.contributorUniversidade de São Paulo (USP)
dc.creatorDutra, Ana Rosa Noronha [UNIFESP]
dc.creatorMancini, Tatiane Iris [UNIFESP]
dc.creatorTakeno, Sylvia Satomi [UNIFESP]
dc.creatorOliveira, Marcio Moyses de [UNIFESP]
dc.creatorKim, Chong A.
dc.creatorPerez, Ana Beatriz Alvarez [UNIFESP]
dc.creatorKulikowski, Leslie Domenici [UNIFESP]
dc.creatorMelaragno, Maria Isabel [UNIFESP]
dc.date.accessioned2016-01-24T14:17:46Z
dc.date.accessioned2023-09-04T18:17:56Z
dc.date.available2016-01-24T14:17:46Z
dc.date.available2023-09-04T18:17:56Z
dc.date.created2016-01-24T14:17:46Z
dc.date.issued2012-01-01
dc.identifierCytogenetic and Genome Research. Basel: Karger, v. 138, n. 1, p. 1-4, 2012.
dc.identifier1424-8581
dc.identifierhttp://repositorio.unifesp.br/handle/11600/34499
dc.identifier10.1159/000339566
dc.identifierWOS:000308976400001
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8612825
dc.description.abstractThe 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
dc.languageeng
dc.publisherKarger
dc.relationCytogenetic and Genome Research
dc.rightshttp://www.karger.com/Services/RightsPermissions
dc.rightsAcesso restrito
dc.subjectBAC
dc.subjectCytogenetic analysis
dc.subjectFISH
dc.subjectIsochromosome 18p
dc.subjectMLPA
dc.subjectSNP array
dc.subjectTetrasomy
dc.subjectTrisomy
dc.titleDifferent Conformation of Two Supernumerary 18p Isochromosomes, One with a Concomitant Partial 18q Trisomy
dc.typeArtigo


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