PATAU SYNDROME: A MOLECULAR ANALYSIS

Аннотация

Patau syndrome (Trisomy 13) is a severe chromosomal disorder caused by the presence of an extra copy of chromosome 13. It is characterized by multiple congenital anomalies, severe intellectual disability, and a high mortality rate. This article presents a molecular overview of the syndrome, highlighting the genetic mechanisms, diagnostic approaches, and implications for prenatal screening andtherapeuticresearch. Keywords: Patau syndrome, Trisomy 13, molecular genetics, prenatal diagnosis, chromosomal abnormalities.