A case with Waardenburg syndrome presenting with two separate translocations--one reciprocal and one complex

Clin Dysmorphol. 2001 Jan;10(1):65-6. doi: 10.1097/00019605-200101000-00014.

Abstract

A 2-month-old Turkish male with Waardenburg syndrome who has two de novo translocations is described. The translocations are a reciprocal translocation between chromosomes 1 and 8, and a more complex translocation involving chromosomes 4 and 7.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 1*
  • Chromosomes, Human, Pair 4*
  • Chromosomes, Human, Pair 7*
  • Chromosomes, Human, Pair 8*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant, Newborn
  • Male
  • Translocation, Genetic*
  • Waardenburg Syndrome / genetics*