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.
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2020-08-01
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| Series: | Clinical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ccr3.2802 |