Down syndrome, commonly called trisomy 21, is a genetic disorder caused by an additional copy of chromosome 21. This condition can result in developmental delays, intellectual disabilities, and specific physical features that are often associated with it.
What exactly is Down Syndrome?
• Genetic Basis: Down syndrome is a genetic condition caused by the presence of all or part of a third copy of chromosome 21.
• Trisomy 21: In most instances, people with Down syndrome have three copies of chromosome 21 instead of the typical two, a situation referred to as trisomy 21.
• Developmental Impact: This additional genetic material can lead to developmental delays, intellectual disabilities, and distinct physical traits.
• Physical Features: Common physical characteristics include a flatter face, particularly at the nose bridge, almond-shaped eyes that tilt upward, and a tendency for the tongue to protrude from the mouth.
• Intellectual Disability: Individuals with Down syndrome often experience mild to moderate intellectual disabilities.
• Medical Conditions: Those with Down syndrome may also face a higher risk of certain health issues, including heart defects, vision and hearing challenges, and other medical conditions.
• Life Expectancy: The life expectancy for individuals with Down syndrome has improved dramatically, with many now living well into adulthood and beyond.
• Support and Resources: With the right support and treatment, many individuals with Down syndrome can lead fulfilling and productive lives.
Types of Down Syndrome:
• Trisomy 21: This is the most prevalent type, where every cell contains three copies of chromosome 21.
• Translocation Down Syndrome: This occurs when a segment of chromosome 21 attaches to another chromosome.
• Mosaic Down Syndrome: A small fraction of individuals with Down syndrome have an extra copy of chromosome 21 present in only some of their cells.
