Question

A child with abnormal facial features was diagnosed with Down syndrome after hospital examination without undergoing Down syndrome screening. The child can walk with support and responds to emotional stimuli. How is Down syndrome formed?

Answer

Down syndrome, also known as trisomy 21 or congenital Down syndrome, is a chromosomal abnormality with the genetic guide number 331600. It is one of the most common severe congenital defects, with patients born with distinct facial features, often accompanied by sleepiness and difficulty eating. As they grow older, the manifestations of intellectual disability become more apparent, along with delays in motor development and sexual maturation. Most patients have multiple organ abnormalities, such as congenital heart disease, leukemia, and gastrointestinal malformations, and their intelligence is severely impaired. It is recommended that families bring the child to the hospital for professional treatment as soon as possible.