Open AccessPrenatal diagnosis and long‐term follow‐up of a Chinese patient with mosaic variegated aneuploidy and its molecular analysis
Author(s) -
Lin Sheng Mou,
Luk Ho Ming,
Lo Ivan Fai Man,
Tam WaiKeung,
Chan Kelvin Yuen Kwong,
Tse HeiYee,
Leung Wing Cheong,
Tang Mary Hoi Yin,
Kan Anita Sik Yau
Publication year - 2020
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.2802
Subject(s) - mosaic , aneuploidy , medicine , prenatal diagnosis , genetic diagnosis , genetic counseling , genetic testing , pediatrics , genetics , pregnancy , biology , fetus , gene , history , archaeology , chromosome
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.