title: Genetic counselling and prenatal diagnosis of osteogenesis imperfecta caused by paternal mosaicism.
abstract: In a family with recurrent osteogenesis imperfecta (OI) caused by paternal mosaicism, prenatal diagnosis was made using restriction enzyme analysis for a mutation in COL1A2. Parental mosaicism is important to consider in genetic counselling for OI. Prenatal diagnosis of OI is available currently by means of collagen or gene analyses in the first trimester or by ultrasonography in the second trimester.
authors.affiliation: Department of Clinical Genetics, University Hospital, Rigshospitalet 4062, Copenhagen, Denmark.
authors.forename: A M
authors.initials: AM
authors.lastname: Lund
authors.forename: M
authors.initials: M
authors.lastname: Schwartz
authors.forename: F
authors.initials: F
authors.lastname: Skovby
mesh_terms: D015193:Chorionic Villi Sampling; D003094:Collagen / Q000235:genetics; D004252:DNA Mutational Analysis; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D004591:Electrophoresis, Polyacrylamide Gel; D005220:Fathers; D005260:Female; D005817:Genetic Counseling; D005865:Gestational Age; D006801:Humans; D008297:Male; D009030:Mosaicism; D010013:Osteogenesis Imperfecta / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D003094:Collagen; C035042:endodeoxyribonuclease FokI; D015252:Deoxyribonucleases, Type II Site-Specific