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Article

A new case of partial 14q31.3-qter trisomy due to maternal pericentric inversion.

Gene - 10 Jul 2013

Sgardioli Ilária Cristina, Simioni Milena, Viguetti-Campos Nilma Lúcia, Prota Joana Rosa, Gil-da-Silva-Lopes Vera Lúcia

Abstract excerpt

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...

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Identifiers

PMID: 23566844
DOI: 10.1016/j.gene.2013.03.115

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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