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Article

Live births following preimplantation genetic testing for dynamic mutation diseases by karyomapping: a report of three cases.

Journal of assisted reproduction and genetics - 1 Mar 2020

Shi Dayuan, Xu Jiawei, Niu Wenbin, Liu Yidong, Shi Hao, Yao Guidong, Shi Senlin, Li Gang, Song Wenyan, Jin Haixia, Sun Yingpu

Abstract excerpt

PURPOSE: The preimplantation genetic testing for monogenic defects (PGT-M) is a beneficial strategy for the patients suffering from a Mendelian disease, which could protect their offspring from inheriting the disease. The purpose of this study is to report the effectiveness of PGT-M based on karyomapping for three cases of dynamic mutation diseases with trinucleotide repeat expansion. METHODS: PGT-M was carried...

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Identifiers

PMID: 32124191
DOI: 10.1007/s10815-020-01718-5
PMCID: PMC7125288

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