Molecular cytogenetic characterization of a constitutional complex intrachromosomal 4q rearrangement in a patient with multiple congenital anomalies

Cytogenet Genome Res. 2006;114(3-4):338-41. doi: 10.1159/000094223.

Abstract

Constitutional Complex Chromosomal Rearrangements (CCRs) are very rare. While the vast majority of CCRs involve more than one chromosome, only seven cases describe CCRs with four or more breakpoints within a single chromosome. Here, we present a patient with multiple congenital anomalies and mental retardation. Array Comparative Genomic Hybridisation (array CGH), FISH and Multicolour Banding FISH revealed a de novo complex rearrangement with two deletions, a duplication and an inversion of 4q. This CCR involving at least seven breakpoints is one of the most complex rearrangements of a single chromosome reported thus far. Potential mechanisms generating such complex rearrangements are discussed.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Banding
  • Chromosome Mapping
  • Chromosomes, Human, Pair 4*
  • Developmental Disabilities / genetics*
  • Gene Rearrangement
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Karyotyping
  • Male