Prenatal diagnosis and genetic counseling of a uniparental isodisomy of chromosome 8 with no phenotypic abnormalities.

Yu C, Tian Y, Qi L, Wang B. Mol Cytogenet. 2022;15(1):18. Published 2022 Apr 26. doi:10.1186/s13039-022-00594-1. Open Access: Learn more

Tags: Case Report / Case Series, 2022, China, RAA

  • Report of a case with NIPT results positive for trisomy 8. Amniocentesis was performed and CMA results were arr 8p23.3p12(168484_29427840) ×2 hmz (29.4 Mb region of uniparental isodisomy of chromosome 8).