Question
What are the clinical manifestations of Down syndrome?
Answer
Down syndrome, also known as trisomy 21 or mongolism, is a chromosomal abnormality disorder. The primary clinical manifestations are intellectual disability, delayed physical development, and specific facial features. A diagnosis can be confirmed through cytogenetic testing (such as chromosomal karyotype analysis from a peripheral blood sample). Currently, there is no method to alter the genetic factors that cause this disease.