Inverted tandem duplication generates a duplication deficiency of chromosome 8p

Clin Genet. 1987 Aug;32(2):109-13. doi: 10.1111/j.1399-0004.1987.tb03335.x.


An adult female with sever mental retardation and dysmorphic features is described. A de novo chromosomal aberration involving 8p was found. The karyotype was 46, XX, inv dup (8) (p12----p23.1). Dosage studies with the DNA probe D8S7, which is located at 8p23----8pter, showed that the patient was monosomic for this marker. Thus the de novo rearrangement generated a duplication-deficiency chromosome. The possible mechanisms of formation of this abnormal chromosome are discussed.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Chromosome Deletion*
  • Chromosome Inversion*
  • Chromosomes, Human, Pair 8*
  • Female
  • Humans
  • Intellectual Disability / genetics*
  • Karyotyping
  • Monosomy*
  • Polymorphism, Restriction Fragment Length