De novo inverted tandem duplication of the short arm of chromosome 12 in a patient with microblepharon

Am J Med Genet. 2001 Nov 15;104(1):42-6. doi: 10.1002/ajmg.10025.


We present a patient with a de novo inverted duplication of nearly the entire short arm of chromosome 12 [inv dup(12)(p13.3p12)], which was characterized using GTG-banding and spectral karyotyping. The patient was noted to have microblepharon, which has not been previously described in children with a similar chromosomal rearrangement. This patient represents one of the few examples of complete and pure trisomy 12p due to inverted duplication of the short arm of chromosome 12 and expands the clinical spectrum.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Chromosome Banding
  • Chromosomes, Human, Pair 12 / genetics*
  • Eyelids / abnormalities*
  • Female
  • Gene Duplication*
  • Humans
  • Infant
  • Karyotyping
  • Male
  • Trisomy*