A complex chromosome rearrangement, der(6)ins(6)(p21.1q25.3q27)inv(6)(p25.3q27), in a child with cleidocranial dysplasia

Jill K. Northup, Reuben Matalon, Lillian H. Lockhart, Judy C. Hawkins, Gopalrao V.N. Velagaleti

Research output: Contribution to journalArticle

4 Scopus citations

Abstract

Complex chromosome rearrangements (CCRs) are structural abnormalities involving >2 chromosomes or >3 breakpoints. It has been suggested that the probability of imbalance increases as the number of breakpoints increase. Here we report a 7-month-old, Hispanic girl presenting with cleidocranial dysplasia (CCD) who was found to have a complex chromosome rearrangement of chromosome 6. Fluorescence in situ hybridization studies with bacterial artificial chromosome (BAC) clones showed that the rearrangement involved insertion of 6q into 6p disrupting the " Runt related transcription factor 2 (RUNX2)" gene at chromosome 6p21.1. In addition, a pericentric inversion of chromosome 6 was identified. Despite the complex nature of the rearrangement, no cryptic deletions or duplications could be detected by array comparative genomic hybridization.

Original languageEnglish (US)
Pages (from-to)e394-e398
JournalEuropean Journal of Medical Genetics
Volume54
Issue number4
DOIs
StatePublished - Jul 1 2011

Keywords

  • ACGH
  • Cleidocranial dysplasia
  • FISH
  • Insertion
  • Inversion

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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