Polymorphisms of the MTHFR gene in mothers of children with trisomy 21 (Down syndrome) in a Polish population

P Czechowicz, M Malodobra-Mazur, K Cukierska… - 2019 - researchsquare.com
Background: Down Syndrome (DS) is the most frequent cause of intellectual disability. In
95% of cases, it is caused by simple trisomy of chromosome 21 resulting from …

Maternal MTHFR 677C>T, 1298A>C gene polymorphisms and risk of offspring aneuploidy

O Miljanović, S Teofilov, M Anđelić, Z Magić… - Prenatal …, 2022 - Wiley Online Library
Objective The objective was to investigate the association between maternal
methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms, crucial for DNA …

Congenital heart defects and hypothyroidism in Down syndrome patients with common MTHFR polymorphisms

M Garg, A Patial, HS Kapoor, SV Attri, I Panigrahi - 2024 - researchsquare.com
MTHFR is an essential enzyme in the folate pathway. Down syndrome (DS), which affects 1
in 700 live births, is common chromosomal aneuploidy with documented dysregulation in …