A preimplantation genetic testing of monogenic diseases. Description of clinical case | Zendy

Igor Yu. Kogan | Zendy; Pavel P. Iakovlev | Zendy; Alexander M. Gzgzyan | Zendy; Irina D. Mekina | Zendy; Marianna Maretina | Zendy; T. Ivaschenko | Zendy; Elena V. Misharina | Zendy; Inna O. Krikheli | Zendy

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A preimplantation genetic testing of monogenic diseases. Description of clinical case

Author(s) -

Igor Yu. Kogan,

Pavel P. Iakovlev,

Alexander M. Gzgzyan,

Irina D. Mekina,

Marianna Maretina,

T. Ivaschenko,

Elena V. Misharina,

Inna O. Krikheli

Publication year - 2018

Publication title -

journal of obstetrics and women s diseases

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.

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