Down Syndrome Awareness Month
Celebrating Abilities: Raising Awareness for Down Syndrome.
Down syndrome is a genetic condition that occurs when an individual has a full or partial extra copy of chromosome 21. Normally, human cells contain 23 pairs of chromosomes, with half inherited from each parent. However, the presence of this additional genetic material in Down syndrome affects development and leads to characteristic features. Common physical traits include low muscle tone, smaller stature, an upward slant of the eyes, and a single deep crease across the palm. It’s important to note that each person with Down syndrome is unique, and these characteristics can vary widely from person to person.
Discovery of Down Syndrome.
Down syndrome was first identified in 1866 by British physician Dr. John Langdon Down, who noticed a distinct set of physical and developmental traits shared by individuals with the condition. However, it wasn’t until 1959 that the genetic cause of Down syndrome was discovered by French geneticist Dr. Jérôme Lejeune.
He determined that the condition was the result of an extra copy of chromosome 21, which disrupts typical human development. This groundbreaking discovery laid the foundation for greater understanding, research, and advocacy for individuals with Down syndrome.
Types of Down Syndrome.
There are three different types of Down syndrome, each caused by variations in the genetic material on chromosome 21. While they share similar physical and developmental traits, the underlying genetic differences set them apart:
- Trisomy 21: This is the most common type, accounting for about 95% of cases. It occurs when every cell in the body has three copies of chromosome 21, instead of the usual two.
- Translocation: In about 3% of cases, an extra part or whole chromosome 21 attaches to another chromosome, typically chromosome 14. This form is called translocation and can be inherited from a parent.
- Mosaicism: This rare form affects about 2% of individuals with Down syndrome. Mosaicism occurs when some cells have the extra copy of chromosome 21, while others do not, leading to a potentially milder expression of Down syndrome characteristics.
The Genetic Mystery: What Causes Down Syndrome?
Down syndrome occurs when an individual has an extra copy of chromosome 21, but the exact reason this happens is still not fully understood. This additional genetic material can result from an error in cell division during the development of the egg, sperm, or embryo.
While maternal age increases the chances of having a child with Down syndrome, it can happen in pregnancies of women at any age. The condition is not caused by anything the parents did before or during pregnancy, and it is a naturally occurring genetic variation.
How You Can Make a Difference
Raising awareness and supporting individuals with Down syndrome is essential to fostering a more inclusive society. You can contribute by learning more about the condition, advocating for policies that promote inclusion, volunteering with organizations that support people with Down syndrome, and celebrating their unique abilities.
Every action helps create a world where everyone is valued and empowered to reach their full potential.
