title: Prenatal diagnosis of hemophilia involving grandpaternal mosaicism.
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.
authors.affiliation: Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco 94143-0720.
authors.forename: R V
authors.initials: RV
authors.lastname: Lebo
authors.forename: M A
authors.initials: MA
authors.lastname: Koerper
authors.forename: J H
authors.initials: JH
authors.lastname: Kim
authors.forename: J
authors.initials: J
authors.lastname: Chueh
authors.forename: M S
authors.initials: MS
authors.lastname: Golbus
mesh_terms: D004252:DNA Mutational Analysis; D005169:Factor VIII / Q000235:genetics*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D006239:Haplotypes / Q000235:genetics; D006467:Hemophilia A / Q000175:diagnosis* / Q000196:embryology / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D009030:Mosaicism; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D014841:von Willebrand Factor / Q000235:genetics
chemical_list: D014841:von Willebrand Factor; D005169:Factor VIII