Partial Monosomy 21 (q11.2→q21.3) Combined With 3p25.3→pter Monosomy Due To An Unbalanced Translocation In A Patient Presenting Dysmorphic Features And Developmental Delay.

dc.creatordos Santos, Ana Paula
dc.creatorVieira, Társis Paiva
dc.creatorSimioni, Milena
dc.creatorMonteiro, Fabíola Paoli
dc.creatorGil-da-Silva-Lopes, Vera Lúcia
dc.date2013-Jan
dc.date2015-11-27T13:32:10Z
dc.date2015-11-27T13:32:10Z
dc.date.accessioned2018-03-29T01:18:30Z
dc.date.available2018-03-29T01:18:30Z
dc.identifierGene. v. 513, n. 2, p. 301-4, 2013-Jan.
dc.identifier1879-0038
dc.identifier10.1016/j.gene.2012.09.008
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/23031812
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/200819
dc.identifier23031812
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1301052
dc.descriptionWe describe a female patient of 1 year and 5 months-old, referred for genetic evaluation due to neuropsychomotor delay, hearing impairment and dysmorphic features. The patient presents a partial chromosome 21 monosomy (q11.2→q21.3) in combination with a chromosome 3p terminal monosomy (p25.3→pter) due to an unbalanced de novo translocation. The translocation was confirmed by fluorescence in situ hybridization (FISH) and the breakpoints were mapped with high resolution array. After the combined analyses with these techniques the final karyotype was defined as 45,XX,der(3)t(3;21)(p25.3;q21.3)dn,-21.ish der(3)t(3;21)(RP11-329A2-,RP11-439F4-,RP11-95E11-,CTB-63H24+).arr 3p26.3p25.3(35,333-10,888,738))×1,21q11.2q21.3(13,354,643-27,357,765)×1. Analysis of microsatellite DNA markers pointed to a paternal origin for the chromosome rearrangement. This is the first case described with a partial proximal monosomy 21 combined with a 3p terminal monosomy due to a de novo unbalanced translocation.
dc.description513
dc.description301-4
dc.languageeng
dc.relationGene
dc.relationGene
dc.rightsfechado
dc.rightsCopyright © 2012 Elsevier B.V. All rights reserved.
dc.sourcePubMed
dc.subjectChromosome Deletion
dc.subjectChromosomes, Human, Pair 21
dc.subjectChromosomes, Human, Pair 3
dc.subjectDevelopmental Disabilities
dc.subjectFace
dc.subjectFemale
dc.subjectHumans
dc.subjectIn Situ Hybridization, Fluorescence
dc.subjectInfant
dc.subjectKaryotyping
dc.subjectMicrosatellite Repeats
dc.subjectMonosomy
dc.subjectTranslocation, Genetic
dc.titlePartial Monosomy 21 (q11.2→q21.3) Combined With 3p25.3→pter Monosomy Due To An Unbalanced Translocation In A Patient Presenting Dysmorphic Features And Developmental Delay.
dc.typeArtículos de revistas


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