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

Autor(es)

Lustosa-Mendes, Elaine ; dos Santos, Ana Paula ; Viguetti-Campos, Nilma Lucia ; Vieira, Tarsis Paiva ; Gil-da-Silva-Lopes, Vera Lucia

• Tipo de documento: Artigo de Revisão
• Fonte: AMERICAN JOURNAL OF MEDICAL GENETICS PART A; v. 173, n. 1, p. 143-150, JAN 2017.
• Citações Web of Science: 5

Resumo

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. (AU)

• Processo FAPESP: 12/51799-6 - Consolidação de estratégia multicêntrica em genética para base de dados clínicos e investigação diagnóstica de fendas orofaciais
• Beneficiário: Vera Lúcia Gil da Silva Lopes
• Modalidade de apoio: Auxílio à Pesquisa - Pesquisa em Políticas Públicas para o SUS