What is Down Syndrome?

Description of the disease

Down syndrome is a genetic disorder caused by the presence of an extra copy of the 21st chromosome pair. People with Down syndrome have an additional copy of chromosome 21, which leads to various physical and intellectual characteristics.

Classification

• Typical Down syndrome (95% of cases)
• Mosaic Down syndrome (4% of cases)
• Translocation Down syndrome (1% of cases)

Symptoms

• Intellectual disability
• Short stature
• Characteristic facial features (slanted eyes, short nose, etc.)
• Heart and gastrointestinal problems

Causes

Down syndrome results from the presence of an extra 21st chromosome in the human genome.

Diagnosis

Down syndrome can be detected through genetic testing, ultrasound screening, and biochemical marker analysis.

Treatment

Treatment for Down syndrome aims to alleviate symptoms and improve the quality of life for patients. It includes physical therapy, speech therapy, surgical intervention for congenital heart defects, and other measures.

Prevention

• Genetic counseling before pregnancy
• Avoiding risk factors, such as early pregnancy at advanced maternal age

Physician

For the diagnosis and treatment of Down syndrome, it is advisable to consult a geneticist, pediatrician, cardiologist, and other specialists.