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Prenatal diagnosis and long‐term follow‐up of a Chinese patient with mosaic variegated aneuploidy and its molecular analysis
- Source :
- Clinical Case Reports, Vol 8, Iss 8, Pp 1369-1375 (2020), Clinical Case Reports
- Publication Year :
- 2020
- Publisher :
- Wiley, 2020.
-
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.
- Subjects :
- Pediatrics
medicine.medical_specialty
animal structures
Long term follow up
viruses
Aneuploidy
lcsh:Medicine
Prenatal diagnosis
Mosaic (geodemography)
Case Report
Case Reports
030204 cardiovascular system & hematology
BUB1B
complex mixtures
03 medical and health sciences
0302 clinical medicine
molecular diagnosis
medicine
lcsh:R5-920
prenatal diagnosis
business.industry
lcsh:R
Genetic disorder
hemic and immune systems
General Medicine
medicine.disease
mosaic variegated aneuploidy
Molecular analysis
030220 oncology & carcinogenesis
business
lcsh:Medicine (General)
Subjects
Details
- Language :
- English
- ISSN :
- 20500904
- Volume :
- 8
- Issue :
- 8
- Database :
- OpenAIRE
- Journal :
- Clinical Case Reports
- Accession number :
- edsair.doi.dedup.....901c647833b647e03182eef8ae970333