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 |
| _version_ | 1818500536382521344 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Sheng Mou Lin |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-10T20:44:03Z |
| format | Article |
| id | doaj.art-5f7d3ec0503c48448b3030a1433f610f |
| institution | Directory Open Access Journal |
| issn | 2050-0904 |
| language | English |
| last_indexed | 2024-12-10T20:44:03Z |
| publishDate | 2020-08-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj.art-5f7d3ec0503c48448b3030a1433f610f2022-12-22T01:34:16ZengWileyClinical Case Reports2050-09042020-08-01881369137510.1002/ccr3.2802Prenatal diagnosis and long‐term follow‐up of a Chinese patient with mosaic variegated aneuploidy and its molecular analysisSheng Mou Lin0Ho Ming Luk1Ivan Fai Man Lo2Wai‐Keung Tam3Kelvin Yuen Kwong Chan4Hei‐Yee Tse5Wing Cheong Leung6Mary Hoi Yin Tang7Anita Sik Yau Kan8Department of Obstetrics and Gynaecology The University of Hong Kong‐Shenzhen Hospital Shenzhen ChinaDepartment of Health Clinical Genetic Service Hong Kong Hong KongDepartment of Health Clinical Genetic Service Hong Kong Hong KongDepartment of Obstetrics and Gynaecology Queen Mary Hospital Hong Kong Hong KongDepartment of Obstetrics and Gynaecology Queen Mary Hospital Hong Kong Hong KongDepartment of Obstetrics and Gynaecology Kwong Wah Hospital Hong Kong Hong KongDepartment of Obstetrics and Gynaecology Kwong Wah Hospital Hong Kong Hong KongDepartment of Obstetrics and Gynaecology The University of Hong Kong‐Shenzhen Hospital Shenzhen ChinaDepartment of Obstetrics and Gynaecology Queen Mary Hospital Hong Kong Hong KongAbstract 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.https://doi.org/10.1002/ccr3.2802molecular diagnosismosaic variegated aneuploidyprenatal diagnosis |
| spellingShingle | 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 Prenatal diagnosis and long‐term follow‐up of a Chinese patient with mosaic variegated aneuploidy and its molecular analysis Clinical Case Reports molecular diagnosis mosaic variegated aneuploidy prenatal diagnosis |
| title | Prenatal diagnosis and long‐term follow‐up of a Chinese patient with mosaic variegated aneuploidy and its molecular analysis |
| title_full | Prenatal diagnosis and long‐term follow‐up of a Chinese patient with mosaic variegated aneuploidy and its molecular analysis |
| title_fullStr | Prenatal diagnosis and long‐term follow‐up of a Chinese patient with mosaic variegated aneuploidy and its molecular analysis |
| title_full_unstemmed | Prenatal diagnosis and long‐term follow‐up of a Chinese patient with mosaic variegated aneuploidy and its molecular analysis |
| title_short | Prenatal diagnosis and long‐term follow‐up of a Chinese patient with mosaic variegated aneuploidy and its molecular analysis |
| title_sort | prenatal diagnosis and long term follow up of a chinese patient with mosaic variegated aneuploidy and its molecular analysis |
| topic | molecular diagnosis mosaic variegated aneuploidy prenatal diagnosis |
| url | https://doi.org/10.1002/ccr3.2802 |
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