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Type: Artigo
Title: A Boy With Partial Dup(18q)/del(18p) Due To A Maternal Pericentric Inversion: Genotype-phenotype Correlation And Risk Of Recombinant Chromosomes Based On Systematic Review Of The Literature
Author: Lustosa-Mendes
Elaine; dos Santos
Ana Paula; Viguetti-Campos
Nilma Lucia; Vieira
Tarsis Paiva; Gil-da-Silva-Lopes
Vera Lucia
Abstract: We report a boy carrying a recombinant chromosome 18, with terminal deletion of 10.8Mb from 18p11.32 to 18p11.21 and a terminal duplication of 22.8Mb from 18q21.31 to 18q23, resulting from a maternal pericentric inversion of the chromosome 18. He presented with poor growth, developmental delay, facial dysmorphisms, surgically repaired left cleft lip and palate, a mild form of holoprosencephaly characterized by single central incisor and agenesis of the septum pellucidum, and body asymmetry. Based on the systematic review of the literature, we discuss genotype-phenotype correlation and the risk for the recombinants of pericentric inversions of chromosome 18. (C) 2016 Wiley Periodicals, Inc.
Subject: Recombinant Chromosome 18
Chromosome 18 Pericentric Inversion
Orofacial Cleft
Single Maxillary Central Incisor
Genotype-phenotype Correlation
Microarray Analysis
Editor: Wiley-Blackwell
Citation: American Journal Of Medical Genetics Part A. Wiley-blackwell, v. 173, p. 143 - 150, 2017.
Rights: fechado
Identifier DOI: 10.1002/ajmg.a.37976
Date Issue: 2017
Appears in Collections:Unicamp - Artigos e Outros Documentos

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