Prenatal diagnosis and long-term follow-up of a Chinese patient with mosaic variegated aneuploidy and its molecular analysis.
Sheng Mou LinHo Ming LukIvan Fai Man LoWai-Keung TamKelvin Yuen Kwong ChanHei-Yee TseWing Cheong LeungMary Hoi Yin TangAnita Sik Yau KanPublished in: Clinical case reports (2020)
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.
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