Complex Rearrangement Involving Three Chromosomes, Four Breakpoints and a 2.7-Mb Deletion in the 18q Segment Observed in a Girl with Mild Learning Difficulties

Maria Kontodiou, Georgios Daskalakis, Annalisa Vetro, Vassilis Paspaliaris, Georgios Papaioannou, Themistoklis Dagklis, Ioannis Tsakiridis, Monika Ziegler, Thomas Liehr, Loretta Thomaidis, Ioannis Papoulidis, Emmanouil Manolakos

Research output: Contribution to journalArticlepeer-review

Abstract

Complex chromosomal rearrangements (CCRs) are balanced or unbalanced structural rearrangements involving 3 or more cytogenetic break events on 2 or more different chromosomes. Here, we report a 7-year-old girl referred to our unit because of mild dysmorphic facial features, mild learning difficulties together with very mild mental retardation. Standard cytogenetic banding analysis revealed a de novo CCR involving chromosomes 1, 2 and 18. Further molecular investigation with aCGH revealed a cryptic interstitial deletion of 2.7 Mb in 18q22.1, which does not elicit a significant clinical phenotype. FISH was performed to confirm both molecular and cytogenetic results.

Original languageEnglish
JournalCytogenetic and Genome Research
DOIs
Publication statusAccepted/In press - Dec 18 2015

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Molecular Biology

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