Down syndrome is a genetic disorder that occurs due to the presence of having extra copy of chromosome 21.
Down syndrome is a genetic disorder that occurs due to the presence of having extra copy of chromosome 21. The presence of extra genetic material alters the development of the person, leading to some characteristic features that can lead to other changes in the body. This condition affects physical, mental and even alters the growth of organs in the body. A person going through this condition can have various abnormalities that affect the overall presence and structure of the body.
What are the Causes of Down Syndrome?
Various causes lead to Down syndrome, including:
- Trisomy: This occurs in 95% of Down syndrome cases, where there are 3 copies of chromosome 21 in place of 2. Which leads to this condition?
- Translocation: This occurs in 4% of people suffering from Down syndrome. In this case, a portion of chromosome 21 is translocated to another chromosome.
- Mosaicism: This condition occurs in 1% of people having this condition. Some cells have an extra chromosome while others do not have the same.
What are the Various Symptoms Related to Down Syndrome?
Various symptoms are related to Down syndrome and these symptoms include:
- The face will be flat
- Hands and ears will be short
- Poor muscles in the body
- There will be a delay in speaking
- Thyroid disorders
- Learning difficulties
- Increased risk of infection
- Gastrointestinal issues
- Low physical and mental development
What are the Various Tests used for the Detection of Down Syndrome?
There are various tests used for the detection of Down syndrome and these include:
- Physical Examination
- Prenatal test screening (Book Now)
- Chronic Villas sampling (Book Now)
- Karyotyping test (Book Now)
Conclusion
Down syndrome is a condition that occurs due to the additional chromosome no. 21. This is a lifelong disease and occurs due to a chromosomal disorder. The presence of extra genetic material alters the development of the person, leading to some characteristic features that can lead to other changes in the body. This condition affects physical, mental and even alters the growth of organs in the body. A person going through this condition can have various abnormalities that affect the overall presence and structure of the body.
Frequently Asked Questions (FAQ’s)
What is the cause of Down syndrome?
There are various causes of Down syndrome like trisomy, translocations and Mosaicism.
What are the various symptoms related to Down syndrome?
There are various symptoms related to Down syndrome and these include short hands and ears will be short, poor muscle in the body, There will be delays in speaking, Thyroid disorders etc.
Is Down syndrome treatable?
No, the disease is chromosome-related; we can only manage the condition.
What are the various tests used for the detection of Down syndrome?
Various tests are available for the detection of Down syndrome, including Prenatal test screening, chorionic villus sampling, Karyotyping test etc.
Which test center is near me for a Down syndrome diagnosis?
Patients can type Down syndrome diagnostic center near me into Google search for the nearest centers.
