New diagnostic method for Pallister-Killian syndrome: detection of i(12p) in interphase nuclei of buccal mucosa by fluorescence in situ hybridization

Am J Med Genet. 1993 Jan 1;45(1):123-8. doi: 10.1002/ajmg.1320450136.

Abstract

Detection of the supernumerary isochromosome 12p [i(12p)] was performed on buccal smear preparations from 2 patients with Pallister-Killian syndrome, 21 (patient 1) and 15 months (patient 2) old, by interphase fluorescence in situ hybridization (FISH) using a chromosome 12-specific alpha satellite probe. Isochromosome 12p-positive cells were identified by observing 3 signals over the nucleus, while diploid cells had 2 signals. The proportion of i(12p)-positive cells thus identified was high in the epithelial cells of buccal mucosa at 68 and 53% from patients 1 and 2, respectively. Further, the frequencies of i(12p)-positive cells were also studied in PHA-stimulated peripheral lymphocytes, cultured skin fibroblasts (both patients), and directly harvested T and B-cells (patient 1). Of these tissues, buccal mucosa showed the highest proportion of i(12p)-positive cells. These findings indicate that epithelial cells of buccal mucosa are likely to retain i(12p)-positive cells. Detection of i(12p) using direct buccal smear preparations by interphase FISH is a rapid, effective and non-invasive method for confirming the diagnosis of the Pallister-Killian syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Cell Nucleus / pathology
  • Chromosomes, Human, Pair 12*
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Intellectual Disability / genetics
  • Intellectual Disability / pathology*
  • Interphase / genetics
  • Male
  • Mouth Mucosa / pathology
  • Mouth Mucosa / ultrastructure
  • Syndrome