Open AccessA preimplantation genetic testing of monogenic diseases. Description of clinical case
Author(s) -
Igor Yu. Kogan,
Коган Игорь Юрьевич,
Pavel P. Iakovlev,
Яковлев Павел Павлович,
Alexander M. Gzgzyan,
Гзгзян Александр Мкртичевич,
Irina D. Mekina,
Мекина Ирина Дмитриевна,
Marianna Maretina,
Маретина Марианна Александровна,
T. Ivaschenko,
Иващенко Татьяна Эдуардовна,
Elena V. Misharina,
Мишарина Елена Владимировна,
Inna O. Krikheli,
Крихели Инна Отаровна
Publication year - 2018
Publication title -
žurnalʺ akušerstva i ženskihʺ boleznej
Language(s) - English
Resource type - Journals
eISSN - 1684-0461
pISSN - 1683-9366
DOI - 10.17816/jowd67192-95
Subject(s) - genetic testing , preimplantation genetic diagnosis , genetics , medicine , gene , mutation , bioinformatics , biology , pregnancy
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.