title: Somatic mosaicism at the Duchenne locus.
abstract: Results of testing a family for carrier status and prenatal diagnosis for Duchenne muscular dystrophy (DMD) are best explained by somatic mosaicism in the maternal grandfather. This genetic situation was identified using segregation analysis of intragenic DNA polymorphisms, a serum creatine phosphokinase assay, and physical examination of the patients. This event at the DMD locus represents one more potential source of error in carrier testing and prenatal diagnosis.
authors.affiliation: Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco.
authors.forename: R V
authors.initials: RV
authors.lastname: Lebo
authors.forename: R K
authors.initials: RK
authors.lastname: Olney
authors.forename: M S
authors.initials: MS
authors.lastname: Golbus
mesh_terms: D003402:Creatine Kinase / Q000097:blood; D004247:DNA / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening; D006579:Heterozygote; D006801:Humans; D008297:Male; D009030:Mosaicism / Q000235:genetics*; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D004247:DNA; D003402:Creatine Kinase