Interstitial 10q21.1q23.31 Duplication due to Meiotic Recombination of a Paternal Balanced Complex Rearrangement: Cytogenetic and Molecular Characterization

Viola Alesi, Valeria Orlando, Silvia Genovese, Sara Loddo, Elisa Pisaneschi, Daniele Pompili, Cecilia Surace, Fabrizia Restaldi, Maria C. Digilio, Bruno Dallapiccola, Maria L. Dentici, Antonio Novelli

Research output: Contribution to journalArticlepeer-review

Abstract

Complex chromosomal rearrangements (CCRs) are structural aberrations involving more than 2 chromosomal breakpoints. They are associated with different outcomes depending on the deletion/duplication of genomic material, gene disruption, or position effects. Balanced CCRs can also undergo missegregation during meiotic division, leading to unbalanced derivative chromosomes and, in some cases, to affected offspring. We report on a patient presenting with developmental and speech delay, growth retardation, microcephaly, hypospadias, and dysmorphic features, harboring an interstitial 10q21.1q23.31 duplication, due to recombination of a paternal CCR. Application of several cytogenetic and molecular techniques allowed determining the biological bases of the rearrangement, understanding the underlying chromosomal mechanism, and assessing the reproductive risk.

Original languageEnglish
Pages (from-to)179-185
Number of pages7
JournalCytogenetic and Genome Research
Volume151
Issue number4
DOIs
Publication statusPublished - Jul 1 2017

Keywords

  • Chromosome 10q
  • Complex chromosome rearrangement
  • Interstitial duplication
  • Meiotic recombination

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Interstitial 10q21.1q23.31 Duplication due to Meiotic Recombination of a Paternal Balanced Complex Rearrangement: Cytogenetic and Molecular Characterization'. Together they form a unique fingerprint.

Cite this