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.
abstract: 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.
authors.affiliation: Faculty of Medical Sciences, Department of Medical Genetics, University of Campinas (Unicamp), São Paulo, Brazil.
authors.forename: Elaine
authors.initials: E
authors.lastname: Lustosa-Mendes
authors.affiliation: Faculty of Medical Sciences, Department of Medical Genetics, University of Campinas (Unicamp), São Paulo, Brazil.
authors.forename: Ana Paula
authors.initials: AP
authors.lastname: Dos Santos
authors.affiliation: Faculty of Medical Sciences, Department of Medical Genetics, University of Campinas (Unicamp), São Paulo, Brazil.
authors.forename: Nilma Lúcia
authors.initials: NL
authors.lastname: Viguetti-Campos
authors.affiliation: Faculty of Medical Sciences, Department of Medical Genetics, University of Campinas (Unicamp), São Paulo, Brazil.
authors.forename: Társis Paiva
authors.initials: TP
authors.lastname: Vieira
authors.affiliation: Faculty of Medical Sciences, Department of Medical Genetics, University of Campinas (Unicamp), São Paulo, Brazil.
authors.forename: Vera Lúcia
authors.initials: VL
authors.lastname: Gil-da-Silva-Lopes
mesh_terms: D059786:Abnormal Karyotype; D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D002648:Child; D002872:Chromosome Deletion; D058674:Chromosome Duplication; D007446:Chromosome Inversion; D019066:Facies; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D000072741:Maternal Inheritance; D010641:Phenotype; D011995:Recombination, Genetic; D014057:Tomography, X-Ray Computed
keywords: chromosome 18 pericentric inversion; genotype-phenotype correlation; microarray analysis; orofacial cleft; recombinant chromosome 18; recurrence; single maxillary central incisor