Cargando…
Prenatal diagnosis and long‐term follow‐up of a Chinese patient with mosaic variegated aneuploidy and its molecular analysis
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.
| Autores principales: | , , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7455400/ https://www.ncbi.nlm.nih.gov/pubmed/32884756 http://dx.doi.org/10.1002/ccr3.2802 |
| _version_ | 1783575616491094016 |
|---|---|
| author | Lin, Sheng Mou Luk, Ho Ming Lo, Ivan Fai Man Tam, Wai‐Keung Chan, Kelvin Yuen Kwong Tse, Hei‐Yee Leung, Wing Cheong Tang, Mary Hoi Yin Kan, Anita Sik Yau |
| author_facet | Lin, Sheng Mou Luk, Ho Ming Lo, Ivan Fai Man Tam, Wai‐Keung Chan, Kelvin Yuen Kwong Tse, Hei‐Yee Leung, Wing Cheong Tang, Mary Hoi Yin Kan, Anita Sik Yau |
| author_sort | Lin, Sheng Mou |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-7455400 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2020 |
| publisher | John Wiley and Sons Inc. |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-74554002020-09-02 Prenatal diagnosis and long‐term follow‐up of a Chinese patient with mosaic variegated aneuploidy and its molecular analysis Lin, Sheng Mou Luk, Ho Ming Lo, Ivan Fai Man Tam, Wai‐Keung Chan, Kelvin Yuen Kwong Tse, Hei‐Yee Leung, Wing Cheong Tang, Mary Hoi Yin Kan, Anita Sik Yau Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2020-05-19 /pmc/articles/PMC7455400/ /pubmed/32884756 http://dx.doi.org/10.1002/ccr3.2802 Text en © 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
| spellingShingle | Case Reports Lin, Sheng Mou Luk, Ho Ming Lo, Ivan Fai Man Tam, Wai‐Keung Chan, Kelvin Yuen Kwong Tse, Hei‐Yee Leung, Wing Cheong Tang, Mary Hoi Yin Kan, Anita Sik Yau Prenatal diagnosis and long‐term follow‐up of a Chinese patient with mosaic variegated aneuploidy and its molecular analysis |
| 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 | Case Reports |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7455400/ https://www.ncbi.nlm.nih.gov/pubmed/32884756 http://dx.doi.org/10.1002/ccr3.2802 |
| work_keys_str_mv | AT linshengmou prenataldiagnosisandlongtermfollowupofachinesepatientwithmosaicvariegatedaneuploidyanditsmolecularanalysis AT lukhoming prenataldiagnosisandlongtermfollowupofachinesepatientwithmosaicvariegatedaneuploidyanditsmolecularanalysis AT loivanfaiman prenataldiagnosisandlongtermfollowupofachinesepatientwithmosaicvariegatedaneuploidyanditsmolecularanalysis AT tamwaikeung prenataldiagnosisandlongtermfollowupofachinesepatientwithmosaicvariegatedaneuploidyanditsmolecularanalysis AT chankelvinyuenkwong prenataldiagnosisandlongtermfollowupofachinesepatientwithmosaicvariegatedaneuploidyanditsmolecularanalysis AT tseheiyee prenataldiagnosisandlongtermfollowupofachinesepatientwithmosaicvariegatedaneuploidyanditsmolecularanalysis AT leungwingcheong prenataldiagnosisandlongtermfollowupofachinesepatientwithmosaicvariegatedaneuploidyanditsmolecularanalysis AT tangmaryhoiyin prenataldiagnosisandlongtermfollowupofachinesepatientwithmosaicvariegatedaneuploidyanditsmolecularanalysis AT kananitasikyau prenataldiagnosisandlongtermfollowupofachinesepatientwithmosaicvariegatedaneuploidyanditsmolecularanalysis |