| Autor: |
Cheng-Wei Wang, Yung-Liang Liu, Chi-Huang Chen |
| Jazyk: |
angličtina |
| Rok vydání: |
2019 |
| Předmět: |
|
| Zdroj: |
Taiwanese Journal of Obstetrics & Gynecology, Vol 58, Iss 6, Pp 891-894 (2019) |
| Druh dokumentu: |
article |
| ISSN: |
1028-4559 |
| DOI: |
10.1016/j.tjog.2019.04.002 |
| Popis: |
Objective: To report a case with Myotonic dystrophy type I with successful preimplantation genetic diagnosis-karyomapping. Case report: A 34-year-old female carrier of myotonic dystrophy type I was treated at our clinic with a successful pregnancy after preimplantation genetic testing for monogenic disorders using karyomapping of her blastocysts. Conclusion: Myotonic dystrophy type I is an inherited autosomal dominant disease producing various neuromuscular disturbances. Offspring of carriers have a 50% chance of carrying CTG repeat sequences in the DMPK gene, and various time-consuming methodologies have been developed for genetic diagnosis. With a novel, efficient, and precise method by karyomapping using single nucleotide polymorphism arrays to diagnose single gene disorders, one could terminate the transmission of single gene disorder. Herein, we reported a 34-year-old female carrier of myotonic dystrophy type I achieve a successful pregnancy after preimplantation genetic testing for monogenic disorders using karyomapping method of her blastocysts. Keywords: Karyomapping, Myotonic dystrophy, Preimplantation genetic testing |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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