Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/200575
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
Female
Humans
Infant
Karyotyping
Phenotype
Polymorphism, Single Nucleotide
Trisomy
Rights: fechado
Identifier DOI: 10.1016/j.gene.2013.03.115
Address: http://www.ncbi.nlm.nih.gov/pubmed/23566844
Date Issue: 2013
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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