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.creatorSantos A.P.D.
dc.creatorVieira T.P.
dc.creatorSimioni M.
dc.creatorMonteiro F.P.
dc.creatorGil-da-Silva-Lopes V.L.
dc.date2013
dc.date2015-06-25T19:16:59Z
dc.date2015-11-26T15:14:54Z
dc.date2015-06-25T19:16:59Z
dc.date2015-11-26T15:14:54Z
dc.date.accessioned2018-03-28T22:24:52Z
dc.date.available2018-03-28T22:24:52Z
dc.identifier
dc.identifierGene. , v. 513, n. 2, p. 301 - 304, 2013.
dc.identifier3781119
dc.identifier10.1016/j.gene.2012.09.008
dc.identifierhttp://www.scopus.com/inward/record.url?eid=2-s2.0-84870739486&partnerID=40&md5=c1bf6f96759c2962ba77f743f611c974
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/89505
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/89505
dc.identifier2-s2.0-84870739486
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1258934
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. © 2012 Elsevier B.V.
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dc.languageen
dc.publisher
dc.relationGene
dc.rightsfechado
dc.sourceScopus
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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