Which genetic condition is also known as Patau Syndrome?

Patau Syndrome is indeed associated with Trisomy 13, which is characterized by the presence of an extra chromosome 13 in an individual’s genetic makeup. This genetic condition leads to significant developmental and physical challenges. The extra chromosome can cause severe intellectual disabilities and multiple congenital anomalies, including but not limited to heart defects, cleft lip and/or palate, and various neurological issues. Identifying Patau Syndrome as Trisomy 13 is crucial for correct diagnosis and subsequent management of the condition.

In contrast, Trisomy 21 is more commonly known as Down Syndrome, and Trisomy 18 is referred to as Edwards Syndrome, both of which have distinct genetic characteristics and clinical presentations. Turner Syndrome, on the other hand, is not a trisomy, but rather a condition that occurs when a female is partially or completely missing an X chromosome. Understanding these distinctions helps clarify why Trisomy 13 is specifically referred to as Patau Syndrome.