Prenatal diagnosis of hemophilia involving grandpaternal mosaicism

Am J Med Genet. 1993 Sep 1;47(3):401-4. doi: 10.1002/ajmg.1320470321.

Abstract

Our Factor VIII and RFLP analyses identified previously unreported grandpaternal hemophilia A mosaicism in a male who transmitted the disease allele to 2 of 4 daughters and 2 of 4 grandsons. An uncommon flanking polymorphic DXS52 allele cosegregated with this grandpaternal mutant allele. This and other reports of mosaic hemophilia A carriers indicate that parental mosaicism can explain unusual segregation of low Factor VIII activities and DNA polymorphisms in about 1% of hemophilia A pedigrees.

Publication types

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

MeSH terms

  • DNA Mutational Analysis
  • Factor VIII / genetics*
  • Female
  • Fetal Diseases / diagnosis*
  • Fetal Diseases / genetics
  • Haplotypes / genetics
  • Hemophilia A / diagnosis*
  • Hemophilia A / embryology
  • Hemophilia A / genetics
  • Heterozygote
  • Humans
  • Male
  • Mosaicism*
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • von Willebrand Factor / genetics

Substances

  • von Willebrand Factor
  • Factor VIII