Lund A M, Schwartz M, Skovby F
Department of Clinical Genetics, University Hospital, Rigshospitalet 4062, Copenhagen, Denmark.
Prenat Diagn. 1996 Nov;16(11):1032-8. doi: 10.1002/(SICI)1097-0223(199611)16:11<1032::AID-PD984>3.0.CO;2-9.
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.
在一个因父亲嵌合体导致复发性成骨不全（OI）的家庭中，通过对COL1A2基因突变进行限制性酶切分析进行了产前诊断。在OI的遗传咨询中，亲本嵌合体是需要考虑的重要因素。目前，OI的产前诊断可在孕早期通过胶原蛋白或基因分析进行，或在孕中期通过超声检查进行。
