Pallister-Killian syndrome: characterization of the isochromosome 12p by fluorescent in situ hybridization

Am J Med Genet. 1991 Dec 1;41(3):381-7. doi: 10.1002/ajmg.1320410321.

Abstract

The isochromosome 12p (i(12p)) in fibroblasts of 3 patients with Pallister-Killian syndrome and one decreased prematurely born neonate, was characterized by fluorescent in situ hybridization (FISH) using chromosome 12-specific DNA probes. FISH is a useful technique for rapid and reliable detection and characterization of the i(12p) chromosome in Pallister-Killian patients. Detection was possible also in interphase cells. In addition, the in vitro selection against i(12p) cells at different passages in fibroblast cultures of two patients was monitored.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Cells, Cultured
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 12*
  • DNA / genetics*
  • Female
  • Fibroblasts / physiology
  • Fluorescence
  • Humans
  • Infant, Newborn
  • Infant, Premature / physiology
  • Intellectual Disability / genetics*
  • Karyotyping
  • Male
  • Mosaicism / genetics*
  • Nucleic Acid Hybridization
  • Syndrome

Substances

  • DNA