Concomitant Turner syndrome and hemophilia A in a female with an idic(X)(p11) heterozygous at locus DXS52

Cytogenet Cell Genet. 1992;59(4):241-2. doi: 10.1159/000133259.

Abstract

A 46,X,idic(X)(p11) karyotype was found in a female affected by Turner syndrome and sporadic moderate hemophilia A. Restriction fragment length polymorphism analysis of the patients's DNA demonstrated that the idic(X) contained alleles from both maternal X chromosomes. Since the idic(X) appeared to be always inactivated, a de novo mutation of factor VIII in the normal paternal X chromosome is probably responsible for the patient's coagulation disorder.

Publication types

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

MeSH terms

  • Adolescent
  • Blotting, Southern
  • Chromosome Aberrations*
  • Female
  • Hemophilia A / complications
  • Hemophilia A / genetics*
  • Heterozygote
  • Humans
  • Male
  • Turner Syndrome / complications
  • Turner Syndrome / genetics*
  • X Chromosome*