Please use this identifier to cite or link to this item:
Type: Artigo de periódico
Title: A New Case Of Partial 14q31.3-qter Trisomy Due To Maternal Pericentric Inversion.
Author: Sgardioli, Ilária Cristina
Simioni, Milena
Viguetti-Campos, Nilma Lúcia
Prota, Joana Rosa
Gil-da-Silva-Lopes, Vera Lúcia
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.
Subject: Abnormalities, Multiple
Chromosome Banding
Chromosome Inversion
Chromosomes, Human, Pair 14
Comparative Genomic Hybridization
Polymorphism, Single Nucleotide
Citation: Gene. v. 523, n. 2, p. 192-4, 2013-Jul.
Rights: fechado
Identifier DOI: 10.1016/j.gene.2013.03.115
Date Issue: 2013
Appears in Collections:Unicamp - Artigos e Outros Documentos

Files in This Item:
File SizeFormat 
pmed_23566844.pdf324.95 kBAdobe PDFView/Open

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.