medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.1234/XXXX-XXXX-2016-8-18-21medgen-158Research ArticleСтатьиДелеция экзона 50 гена COL1А2 у плода второго триместра с несовершенным остеогенезом 2 типаIdentification of a COL1А2 deletion in exon 50 in a 2nd trimester fetus with osteogenesis imperfecta type 2НовиковаИ. В.NovikovaI. V.i.novikova@mail.ruВенчиковаН. А.VenchikovaN. A.noemail@neicon.ruСоловьеваИ. В.SolovyevaI. V.noemail@neicon.ruГусинаА. А.GusinaA. A.noemail@neicon.ruГУ Республиканский научно-практический центр «Мать и дитя»РоссияBelorussian State Scientific Practical Center «Mother and child»Russian Federation2016071020161581821Copyright © Новикова И.В., Венчикова Н.А., Соловьева И.В., Гусина А.А., 20162016Новикова И.В., Венчикова Н.А., Соловьева И.В., Гусина А.А.Novikova I.V., Venchikova N.A., Solovyeva I.V., Gusina A.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/158

Приведено описание случая несовершенного остеогенеза 2 типа, выявленного у плода 20 недель гестации. Диагноз верифицирован при постабортном патологоанатомическом исследовании. При молекулярно-генетическом исследовании выявлена делеция экзона 50 гена COL1А2 .

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.

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The authors declare that there are no conflicts of interest present.