Prenatal diagnosis and long-term follow-up of a Chinese patient with mosaic variegated aneuploidy and its molecular analysis

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

doi:10.1002/ccr3.2802

Prenatal diagnosis and long-term follow-up of a Chinese patient with mosaic variegated aneuploidy and its molecular analysis

Clin Case Rep. 2020 May 19;8(8):1369-1375. doi: 10.1002/ccr3.2802. eCollection 2020 Aug.

Authors

Sheng Mou Lin¹, Ho Ming Luk², Ivan Fai Man Lo², Wai-Keung Tam^{3

4}, Kelvin Yuen Kwong Chan^{3

4}, Hei-Yee Tse⁵, Wing Cheong Leung⁵, Mary Hoi Yin Tang^{1

4

6}, Anita Sik Yau Kan^{3

4}

Affiliations

¹ Department of Obstetrics and Gynaecology The University of Hong Kong-Shenzhen Hospital Shenzhen China.
² Department of Health Clinical Genetic Service Hong Kong Hong Kong.
³ Department of Obstetrics and Gynaecology Queen Mary Hospital Hong Kong Hong Kong.
⁴ Prenatal Diagnostic Laboratory Tsan Yuk Hospital Hong Kong Hong Kong.
⁵ Department of Obstetrics and Gynaecology Kwong Wah Hospital Hong Kong Hong Kong.
⁶ Department of Obstetrics and Gynaecology The University of Hong Kong Hong Kong Hong Kong.

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.

Keywords: molecular diagnosis; mosaic variegated aneuploidy; prenatal diagnosis.

Publication types

Case Reports