De novo inverted interstitial ("mirror") duplication of chromosome 8(q13----q24.1) in a liveborn male

Am J Med Genet. 1990 Apr;35(4):529-31. doi: 10.1002/ajmg.1320350418.

Abstract

We report on a newborn boy with a de novo inverted interstitial duplication of chromosome 8(q13----q24.1). This form of cytogenetic abnormality, in which a mirror image interstitial duplication has occurred, is exceedingly rare. Review of the literature and mechanisms to explain the origin of this type of chromosome aberration are presented. A review of the findings from individuals with partial dup(8q) demonstrate remarkable similarity to the infant we describe.

MeSH terms

  • Chromosome Aberrations / genetics*
  • Chromosome Inversion*
  • Chromosomes, Human, Pair 8 / ultrastructure*
  • Facial Bones / abnormalities
  • Genitalia, Male / abnormalities
  • Humans
  • Hypertelorism
  • Infant, Newborn
  • Male
  • Skull / abnormalities
  • Tetralogy of Fallot