Identification of a COL1А2 deletion in exon 50 in a 2nd trimester fetus with osteogenesis imperfecta type 2
https://doi.org/10.1234/XXXX-XXXX-2016-8-18-21
Abstract
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.
About the Authors
I. V. Novikova
Belorussian State Scientific Practical Center «Mother and child»
Russian Federation
Russian Federation
N. A. Venchikova
Belorussian State Scientific Practical Center «Mother and child»
Russian Federation
Russian Federation
I. V. Solovyeva
Belorussian State Scientific Practical Center «Mother and child»
Russian Federation
Russian Federation
A. A. Gusina
Belorussian State Scientific Practical Center «Mother and child»
Russian Federation
Russian Federation
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Review
For citations:
Novikova I.V., Venchikova N.A., Solovyeva I.V., Gusina A.A. Identification of a COL1А2 deletion in exon 50 in a 2nd trimester fetus with osteogenesis imperfecta type 2. Medical Genetics. 2016;15(8):18-21. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2016-8-18-21
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