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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

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

Lin Sheng Mou SM Luk Ho Ming HM Lo Ivan Fai Man IFM Tam Wai-Keung WK Chan Kelvin Yuen Kwong KYK Tse Hei-Yee HY Leung Wing Cheong WC Tang Mary Hoi Yin MHY Kan Anita Sik Yau ASY

Clinical case reports 20200519 8

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. ...[more]

PMID: 32884756

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Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.

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BubR1 allelic effects drive phenotypic heterogeneity in mosaic-variegated aneuploidy progeria syndrome.

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