Recurrent proximal 18p monosomy and 18q trisomy in a family due to a pericentric inversion


Zamani A. G. , Acar A., Durakbasi-Dursun G., Yildirim M. S. , CEYLANER S. , Tuncez E.

American Journal of Medical Genetics, Part A, vol.164, no.5, pp.1239-1244, 2014 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 164 Issue: 5
  • Publication Date: 2014
  • Doi Number: 10.1002/ajmg.a.36410
  • Title of Journal : American Journal of Medical Genetics, Part A
  • Page Numbers: pp.1239-1244
  • Keywords: chromosomal abnormalities, chromosome 18, pericentric inversion, parental origin, BIPOLAR DISORDER, MOLECULAR CHARACTERIZATION, RECOMBINANT CHROMOSOME-18, MONOZYGOTIC TWINS, PHENOTYPE, DELETION

Abstract

Here, we report on a family with pericentric inversion of chromosome 18 [inv(18)(p11.2q21)] and two recombinants with a duplication of q21→qter and a deletion of p11.2→pter regions in a four-generation family. This chromosomal abnormality was inherited in our first patient from the father, while it was transmitted to the second patient from the mother. Array-CGH analysis were used to better characterize duplicated and deleted chromosomal regions and showed no genomic copy number variation (CNV) differences between these two relatives. We discussed genotype-phenotype correlations including previously reported. © 2014 Wiley Periodicals, Inc.