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

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.

Bibliographic Details
Main Authors: Sheng Mou Lin, Ho Ming Luk, Ivan Fai Man Lo, Wai‐Keung Tam, Kelvin Yuen Kwong Chan, Hei‐Yee Tse, Wing Cheong Leung, Mary Hoi Yin Tang, Anita Sik Yau Kan
Format: Article
Language:English
Published: Wiley 2020-08-01
Series:Clinical Case Reports
Subjects:
molecular diagnosis
mosaic variegated aneuploidy
prenatal diagnosis
Online Access:https://doi.org/10.1002/ccr3.2802
Description
Summary: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.
ISSN:2050-0904

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