Partial trisomy 8 mosaicism with 46,XX/46,XX-8,+dic(8)

Ann Genet. 1980;23(2):100-2.


We report a girl with partial trisomy-8 mosaicism whose clinical findings were those of the Warkany et al. (1962) [17] or trisomy 8 syndrome. A dicentric autosome, dic(8) (qter leads to p21::p21 leads to qter), was found in all abnormal cells and evidence is presented that one centromere was inactive, allowing the dicentric to behave as a monocentric chromosome. The parents had normal karyotypes.

Publication types

  • Case Reports

MeSH terms

  • Centromere
  • Chromosome Aberrations / pathology
  • Chromosome Disorders
  • Chromosomes, Human, 6-12 and X* / ultrastructure
  • Female
  • Humans
  • Infant
  • Mosaicism*
  • Trisomy*