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

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• 作者：Elaine Lustosa-Mendes ; Ana Paula dos Santos ; Nilma Lú ; cia Viguetti-Campos ; T&aacute ; rsis Paiva Vieira and Vera Lú ; cia Gil-da-Silva-Lopes
• 刊名：American Journal of Medical Genetics Part A
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：173
• 期：1
• 页码：143-150
• 全文大小：755K
• ISSN：1552-4833

文摘

We report a boy carrying a recombinant chromosome 18, with terminal deletion of 10.8 Mb from 18p11.32 to 18p11.21 and a terminal duplication of 22.8 Mb 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.