Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant: case report and review of triplications and their possible mechanism

Am J Med Genet. 1999 Feb 12;82(4):312-7. doi: 10.1002/(sici)1096-8628(19990212)82:4<312::aid-ajmg7>;2-9.


A female fetus with brain malformations, multicystic kidneys, absence of the right thumb, and a posterior cleft of palate was delivered at 32 weeks of gestation. Cytogenetic studies including FISH showed a novel intrachromosomal triplication of the proximal long arm of chromosome 2 (q11.2-q21), resulting in tetrasomy for this segment. The middle repeat was inverted. At least 11 patients with intrachromosomal triplications have been reported, mostly involving chromosome 15q. The mechanism involved in formation of these rearrangements is compatible with U-type exchange events among three chromatids.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Aneuploidy*
  • Bone and Bones / abnormalities
  • Bone and Bones / diagnostic imaging
  • Brain / abnormalities
  • Chromosome Banding
  • Chromosomes, Human, Pair 2 / genetics*
  • Cleft Palate / genetics
  • Female
  • Gene Dosage
  • Hand Deformities, Congenital / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant, Newborn
  • Models, Genetic
  • Polycystic Kidney Diseases / genetics
  • Polycystic Kidney Diseases / pathology
  • Radiography