Email this article A preimplantation genetic testing of monogenic diseases. Description of clinical case
- Authors: Kogan I.Y.1, Iakovlev P.P.1, Gzgzyan A.M.1, Mekina I.D.1, Maretina M.A.1, Ivaschenko T.E.1, Misharina E.V.1, Krikheli I.O.1
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Affiliations:
- Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott
- Issue: Vol 67, No 1 (2018)
- Pages: 92-95
- Section: Articles
- URL: https://bakhtiniada.ru/jowd/article/view/8371
- DOI: https://doi.org/10.17816/JOWD67192-95
- ID: 8371
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Abstract
Preimplantation genetic testing performed to analyze the chromosomal structural rearrangements, monogenic/single gene defects and aneuploidies. The aim of this study is to show the discussion of a clinical case of preimplantation genetic testing in the family of SMN1 gene mutation carriers with the subsequent birth of a healthy child.
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##article.viewOnOriginalSite##About the authors
Igor Yu. Kogan
Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott
Author for correspondence.
Email: ikogan@mail.ru
PhD, AM RAM, Scientific Secretary
Russian Federation, Saint PetersburgPavel P. Iakovlev
Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott
Email: iakovlevpp@gmail.com
PhD student
Russian Federation, Saint PetersburgAlexander M. Gzgzyan
Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott
Email: iagmail@ott.ru
MD, Head of Department Reproductive Technologies
Russian Federation, Saint PetersburgIrina D. Mekina
Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott
Email: iagmail@ott.ru
Candidate of Biological Sciences. Research fellow of Department Reproductive Technologies
Russian Federation, Saint PetersburgMarianna A. Maretina
Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott
Email: marianna0204@gmail.com
Junior Research Associate of the Laboratory of Prenatal Diagnostics of Congenial and Hereditary Diseases
Russian Federation, Saint PetersburgTatyana E. Ivaschenko
Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott
Email: marianna0204@gmail.com
Dr. Sci, Professor, Leading Researcher of the Laboratory of Prenatal Diagnostics of Congenial and Hereditary Diseases
Russian Federation, Saint PetersburgElena V. Misharina
Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott
Email: mishellena@gmail.com
PhD, Senior Researcher at the Department of Endocrinology
Russian Federation, Saint PetersburgInna O. Krikheli
Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott
Email: iagmail@ott.ru
MD, Research fellow of Department Reproductive Technologies
Russian Federation, Saint PetersburgReferences
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