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Aberrant meiotic recombination mediated by maternal RNF212, PRDM9, and SPO11 variants increases risk of chromosome 21 nondisjunction and Down syndrome birth

Abstract Background The cause of chromosome 21nondisjunction and subsequent Down syndrome birth are not all stochastic and there are certain genetic predispositions for meiotic recombination anomalies that increase the risk of trisomy21 conception. This entire etiology is complicated, enigmatic and...

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Principais autores: Upamanyu Pal, Pinku Halder, Agnish Ganguly, Sumantra Sarkar, Papiya Ghosh, Sujay Ghosh
Formato: Artigo
Idioma:Inglês
Publicado em: SpringerOpen 2025-12-01
coleção:Egyptian Journal of Medical Human Genetics
Assuntos:
Down syndrome
Recombination error
Nondisjunction
Genetic variants
PRDM9
RNF212
Acesso em linha:https://doi.org/10.1186/s43042-025-00813-5
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