Down syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of an extra copy of chromosome 21. Normally, each cell in the human body contains 23 pairs of chromosomes, for a total of 46 chromosomes. In individuals with Down syndrome, there is an extra copy of chromosome 21, resulting in a total of 47 chromosomes.
The extra genetic material can lead to developmental and intellectual challenges, as well as certain physical characteristics. Some common features of Down syndrome include:
- Intellectual disability: People with Down syndrome often have cognitive delays, and the level of intellectual disability can vary widely among individuals.
- Physical features: Individuals with Down syndrome may have distinctive physical features, such as a flat facial profile, almond-shaped eyes, a small nose, and a protruding tongue. They may also have low muscle tone.
- Health issues: People with Down syndrome are more prone to certain health conditions, including heart defects, respiratory problems, and gastrointestinal issues. Regular medical check-ups and interventions may be necessary to address these concerns.
- Developmental delays: Individuals with Down syndrome may experience delays in reaching developmental milestones, such as walking and talking.
It’s important to note that while individuals with Down syndrome may share some physical and developmental characteristics, each person is unique, and the range and severity of symptoms can vary widely. With appropriate support, education, and healthcare, many people with Down syndrome lead fulfilling and active lives. Advances in medical care and increased awareness have improved the quality of life for individuals with Down syndrome and their families.
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