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Type: Artigo de periódico
Title: 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.
Author: dos Santos, Ana Paula
Vieira, Társis Paiva
Simioni, Milena
Monteiro, Fabíola Paoli
Gil-da-Silva-Lopes, Vera Lúcia
Abstract: We 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.
Subject: Chromosome Deletion
Chromosomes, Human, Pair 21
Chromosomes, Human, Pair 3
Developmental Disabilities
In Situ Hybridization, Fluorescence
Microsatellite Repeats
Translocation, Genetic
Citation: Gene. v. 513, n. 2, p. 301-4, 2013-Jan.
Rights: fechado
Identifier DOI: 10.1016/j.gene.2012.09.008
Date Issue: 2013
Appears in Collections:Unicamp - Artigos e Outros Documentos

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