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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(s) -
LustosaMendes Elaine,
dos Santos Ana Paula,
ViguettiCampos Nilma Lúcia,
Vieira Társis Paiva,
GildaSilvaLopes Vera Lúcia
Publication year - 2017
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37976
Subject(s) - holoprosencephaly , chromosomal inversion , dup , genetics , biology , septum pellucidum , phenotype , genotype , chromosome , gene duplication , karyotype , anatomy , gene , fetus , pregnancy
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. © 2016 Wiley Periodicals, Inc.