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.

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Clin Case Rep
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley and Sons Inc. 2020
Pynciau:
Case Reports
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7455400/
https://ncbi.nlm.nih.gov/pubmed/32884756
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.2802
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