title: Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18.
abstract: In this study, we report a familial inversion of chromosome 18, inv(18)(p11.31q21.33), in both members of a consanguineous couple. Their first child had inherited one balanced pericentric inversion along with a recombinant chromosome 18 resulting in dup(18q)/del(18p), and had mild dysmorphic features in the absence of mental and developmental retardation. The second child had received two recombinant chromosomes 18, from the mother a derivative chromosome 18 with dup(18p)/del(18q) and from the father a derivative chromosome 18 with dup(18q)/del(18p). The aberration was prenatally detected; however, as the two opposite aneuploidies were thought to compensate each other, the family decided to carry on with the pregnancy, knowing that uniparental disomy for the segments outside the inversion could have an adverse influence on the development of the child. Uniparental disomy was confirmed by SNP arrays. The child, who has been followed up until the age of 20 months, is healthy and normal. It seems to be the first reported case with two opposite recombinant chromosomes that compensate each other and lead to segmental uniparental disomy for two segments on the chromosome, one maternal and the other paternal.
authors.affiliation: Kariminejad Najmabadi Pathology and Genetics Center, Tehran Iran. arianakariminejad@yahoo.com
authors.forename: Ariana
authors.initials: A
authors.lastname: Kariminejad
authors.forename: Roxana
authors.initials: R
authors.lastname: Kariminejad
authors.forename: Azadeh
authors.initials: A
authors.lastname: Moshtagh
authors.forename: Maryam
authors.initials: M
authors.lastname: Zanganeh
authors.forename: Mohammad Hassan
authors.initials: MH
authors.lastname: Kariminejad
authors.forename: Stefan
authors.initials: S
authors.lastname: Neuenschwander
authors.forename: Michal
authors.initials: M
authors.lastname: Okoniewski
authors.forename: Eva
authors.initials: E
authors.lastname: Wey
authors.forename: Albert
authors.initials: A
authors.lastname: Schinzel
authors.forename: Alessandra
authors.initials: A
authors.lastname: Baumer
mesh_terms: D002648:Child; D002675:Child, Preschool; D007446:Chromosome Inversion; D002887:Chromosomes, Human, Pair 18; D003241:Consanguinity; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D010375:Pedigree; D024182:Uniparental Disomy