Partial trisomy 2p and partial monosomy 2q arising from a paternal intrachromosomal 2q-into-2p between-arm insertion and paracentric inversion: Molecular cytogenetic characterization of a four-break rearrangement

E. Manolakos, A. Vetro, E. Papadopoulou, K. Kefalas, M. Lagou, L. Thomaidis, P. Peitsidis, S. Sifakis, A. Divane, M. Ziegler, T. Liehr, O. Zuffardi, I. Papoulidis

Research output: Contribution to journalArticlepeer-review

Abstract

We report on a 26-month-old boy with an interstitial duplication of 2p22.3p22.2 and an interstitial deletion of 2q14.1q21.2. The abnormality was derived from his father having a balanced paracentric inversion and pericentric insertion. The deletion in the child was identified by cytogenetic analysis and characterized in more detail by molecular cytogenetics and array comparative genomic hybridization. The latter revealed a 20-Mb deletion in the long arm and a 5.6-Mb duplication in the short arm of chromosome 2. Fluorescence in situ hybridization in paternal chromosomes characterized an intrachromosomal insertion of 2q14.1q21.2 into 2p23; additionally a paracentric inversion of 2p13p23 was observed. The boy with the unbalanced karyotype suffered from severe psychomotor retardation, thrombophilia due to protein C deficiency, and hypertrophic cardiomyopathy and also had phenotypic abnormalities. Most of these features have previously been described in individuals with interstitial deletion of 2q14.1.

Original languageEnglish
Pages (from-to)12-20
Number of pages9
JournalCytogenetic and Genome Research
Volume140
Issue number1
DOIs
Publication statusPublished - May 2013

Keywords

  • Array-CGH
  • Deletion 2q14.1q21.2
  • Duplication 2p22.3p22.2
  • Mental retardation
  • Paracentric inversion
  • Pericentric insertion

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Molecular Biology

Fingerprint Dive into the research topics of 'Partial trisomy 2p and partial monosomy 2q arising from a paternal intrachromosomal 2q-into-2p between-arm insertion and paracentric inversion: Molecular cytogenetic characterization of a four-break rearrangement'. Together they form a unique fingerprint.

Cite this