Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/76156
Type: Artigo de periódico
Title: A new case of partial 14q31.3-qter trisomy due to maternal pericentric inversion
Author: Sgardioli, IC
Simioni, M
Viguetti-Campos, NL
Prota, JR
Gil-da-Silva-Lopes, VL
Abstract: Chromosome 14 is often involved in chromosome rearrangements, although pericentric inversions are rare. Here we report a mother carrying a pericentric inversion of chromosome 14, and her daughter with recombinant chromosome characterized by a partial distal 14q trisomy. Principal clinical findings of the child include facial anomalies, microcephaly, developmental delay, hypotonia and cardiac malformation. Her final karyotype was 46,XX,rec(14)dup(14q)inv(14)(p12q31)mat[20], arr 14q31.3qter(85,427,839-106,356,482) x3. This report brings new data about clinical features of partial 14q trisomy and molecular analysis enables the visualization of genes involved in the segment duplicated. (C) 2013 Elsevier B.V. All rights reserved.
Subject: Pericentric inversion
Recombinant chromosome
Partial distal 14q trisomy
Congenital defects
Country: Holanda
Editor: Elsevier Science Bv
Rights: fechado
Identifier DOI: 10.1016/j.gene.2013.03.115
Date Issue: 2013
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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