Identification of a <i>COL1А2</i> deletion in exon 50 in a 2<sup>nd</sup> trimester fetus with osteogenesis imperfecta type 2
A case of osteogenesis imperfecta type 2 in a 20 weeks fetus aborted after prenatal diagnosis is reported. Prenatal diagnosis was verified after termination of pregnancy. Molecular analysis by multiplex ligation-dependent probe amplification revealed a COL1А2 deletion in exon 50.