De novo pericentric inversion of chromosome 4, inv(4)(p16q12) in a boy with piebaldism and mental retardation

Am J Med Genet. 2002 Nov 22;113(2):190-2. doi: 10.1002/ajmg.10739.

Abstract

An 8-year-old boy who was diagnosed to have piebaldism had moderate growth and mental retardation. Chromosome analysis from peripheral blood showed pericentric inversion 4(p16q12). The inversion was further confirmed by fluorescence in situ hybridization using whole chromosome painting and centromeric probes. Chromosomal analysis of parents revealed de novo inheritance of this inversion. This is the first report of pericentric inversion associated with piebald trait.

Publication types

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

MeSH terms

  • Child
  • Chromosome Banding
  • Chromosome Inversion*
  • Chromosomes, Human, Pair 4 / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability / complications*
  • Karyotyping
  • Male
  • Piebaldism / complications
  • Piebaldism / genetics*