Down syndrome, also known as Trisomy 21, is a genetic condition caused by the presence of all or part of an extra 21st chromosome. It is typically associated with physical growth delays, mild to moderate intellectual disability, and characteristic facial features. The condition occurs in people of all races and economic backgrounds, although older mothers have an increased chance of having a child with Down syndrome.
Genetics of Down Syndrome
Down syndrome is caused by the presence of an extra chromosome 21, which is why it is also known as Trisomy 21. The extra chromosome 21 disrupts the normal course of development, causing the characteristics associated with Down syndrome. The extra chromosome can be inherited from a parent, but it usually occurs as a random error during the formation of eggs or sperm.
Risk Factors for Down Syndrome
The risk of having a child with Down syndrome increases with the age of the mother. Women aged 35 and older are more likely to have a baby with Down syndrome than younger women. Other factors that may increase the risk of Down syndrome include a family history of the disorder, certain genetic disorders, and certain types of cancer.
Diagnosis of Down Syndrome
Down syndrome is usually diagnosed through a combination of physical exams, genetic testing, and imaging tests such as an ultrasound or an MRI. Tests used to diagnose Down syndrome may include a blood test, a chromosome analysis, or an amniocentesis.
Treatment of Down Syndrome
There is no cure for Down syndrome, but there are treatments that can help manage the condition and its associated symptoms. Treatment may include physical therapy, speech therapy, occupational therapy, and educational interventions. People with Down syndrome may also benefit from a supportive environment and specialized medical care.