Down syndrome, also known as trisomy 21, is a common chromosomal abnormality disease seen in pediatric chromosomal disorders. Patients primarily exhibit intellectual disability, delayed physical development, and distinctive facial features. The expected lifespan of individuals with Down syndrome varies due to the severity of the condition and the medical care they receive, but many can live into adulthood.

How long do children with phenylketonuria live?

Down Syndrome is classified into standard and translocation types based on chromosomal karyotypes, with symptoms of mosaic types varying with the proportion of normal cells.

A seven-year-old child has a triangular head deformity, and the parents are very worried. Learn about the impact of this condition on the child and the ways to manage it.

What treatments should galactosemia patients receive?

Understanding the Genetic Characteristics of Epilepsy and How to Determine Epileptic Seizure Types

Explore the treatment and alleviation methods for Down Syndrome, emphasizing that while there is no cure, quality of life can be improved through long-term education and training.

Learn about the severity and grading of thalassemia and obtain professional medical advice.

Learn how to properly care for children with genetic epilepsy to promote their intellectual development and mental health.

Galactosemia can be diagnosed through urine and blood tests, including urine galactose tests and blood galactose concentration measurements.