A New Case Of Partial 14q31.3-qter Trisomy Due To Maternal Pericentric Inversion.

dc.creatorSgardioli, Ilária Cristina
dc.creatorSimioni, Milena
dc.creatorViguetti-Campos, Nilma Lúcia
dc.creatorProta, Joana Rosa
dc.creatorGil-da-Silva-Lopes, Vera Lúcia
dc.date2013-Jul
dc.date2015-11-27T13:31:36Z
dc.date2015-11-27T13:31:36Z
dc.date.accessioned2018-03-29T01:17:33Z
dc.date.available2018-03-29T01:17:33Z
dc.identifierGene. v. 523, n. 2, p. 192-4, 2013-Jul.
dc.identifier1879-0038
dc.identifier10.1016/j.gene.2013.03.115
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/23566844
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/200575
dc.identifier23566844
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1300808
dc.descriptionChromosome 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.
dc.description523
dc.description192-4
dc.languageeng
dc.relationGene
dc.relationGene
dc.rightsfechado
dc.rightsCopyright © 2013 Elsevier B.V. All rights reserved.
dc.sourcePubMed
dc.subjectAbnormalities, Multiple
dc.subjectChromosome Banding
dc.subjectChromosome Inversion
dc.subjectChromosomes, Human, Pair 14
dc.subjectComparative Genomic Hybridization
dc.subjectFemale
dc.subjectHumans
dc.subjectInfant
dc.subjectKaryotyping
dc.subjectPhenotype
dc.subjectPolymorphism, Single Nucleotide
dc.subjectTrisomy
dc.titleA New Case Of Partial 14q31.3-qter Trisomy Due To Maternal Pericentric Inversion.
dc.typeArtículos de revistas


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