Prenatal diagnosis and long-term follow-up of a Chinese patient with mosaic variegated aneuploidy and its molecular analysis.

ABSTRACT: Mosaic variegated aneuploidy (MVA) is a rare genetic disorder caused by mutations in BUB1B, CEP57, or TRIP13. We describe the prenatal diagnosis, molecular characterization, and clinical management of a long-lived patient with BUB1B-related MVA.

SUBMITTER: Lin SM 

PROVIDER: S-EPMC7455400 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature