Tissue specificity and stability of mosaicism in Pallister-Killian +i(12p) syndrome: relevance for prenatal diagnosis

Am J Med Genet. 1992 Apr 1;42(6):820-4. doi: 10.1002/ajmg.1320420615.

Abstract

We ascertained +i(12p) mosaicism during third trimester in a case of polyhydramnios and diaphragmatic hernia. Primary cultures of amniocytes had colonies with +i(12p), colonies without +i(12p), and mixed colonies with 46/47,+i(12p). The likely explanation was instability and loss of i(12p) during somatic divisions of amniocytes. Fetal blood in third trimester retained +i(12p) in 13% of cells. A review of mosaicism in published cases indicates that factors influencing the presence of +i(12p) include tissue type and in vitro and in vivo age. In blood, amniocyte, and probably bone marrow cultures, +i(12p) is less stable than in fibroblast-like cultures derived from skin and other tissues. Young cultures at early passage are more likely to have +i(12p) than old cultures. Cultures from young (especially fetal) donors are more likely to retain +i(12p) than cultures from adult donors. These rules will be important in determining appropriate tissues for diagnosis and interpretation of mosaicism in this disorder.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amniotic Fluid
  • Cells, Cultured
  • Chromosome Aberrations / diagnostic imaging
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Chromosomes, Human, Pair 12*
  • Female
  • Humans
  • Lymphocytes / metabolism
  • Lymphocytes / pathology*
  • Mosaicism*
  • Pregnancy
  • Pregnancy Trimester, Third
  • Syndrome
  • Ultrasonography, Prenatal*