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

Am J Med Genet A. 2017 Jan;173(1):143-150. doi: 10.1002/ajmg.a.37976. Epub 2016 Sep 15.

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.

Keywords: chromosome 18 pericentric inversion; genotype-phenotype correlation; microarray analysis; orofacial cleft; recombinant chromosome 18; recurrence; single maxillary central incisor.

Publication types

  • Case Reports
  • Review
  • Systematic Review

MeSH terms

  • Abnormal Karyotype
  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics
  • Child
  • Chromosome Deletion*
  • Chromosome Duplication*
  • Chromosome Inversion*
  • Facies
  • Female
  • Genetic Association Studies*
  • Humans
  • Male
  • Maternal Inheritance*
  • Phenotype
  • Recombination, Genetic
  • Tomography, X-Ray Computed