Sublocalization of von Willebrand factor pseudogene to 22q11.22-q11.23 by in situ hybridization in a 46,X,t(X;22)(pter;q11.21) translocation

Hum Genet. 1989 Oct;83(3):264-6. doi: 10.1007/BF00285168.

Abstract

The von Willebrand factor pseudogene, previously mapped to chromosome 22, was sublocalized by in situ hybridization using as probe a von Willebrand factor cDNA fragment completely contained in the pseudogenic region. Chromosome spreads were from a patient carrying a unique balanced de novo translocation 46,X,t(X;22)(pter;q11.21). Silver grain analysis indicated that the human von Willebrand factor pseudogene is located on 22q,11,22-q11,23, a region relevant for several somatic and constitutional chromosomal alterations.

Publication types

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

MeSH terms

  • Child, Preschool
  • Chromosome Banding
  • Chromosome Mapping
  • Chromosomes, Human, Pair 22*
  • DNA / genetics
  • Female
  • Humans
  • Karyotyping
  • Nucleic Acid Hybridization
  • Pseudogenes*
  • Translocation, Genetic*
  • X Chromosome*
  • von Willebrand Factor / genetics*

Substances

  • von Willebrand Factor
  • DNA