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Awareness of Down Syndrome: Causes and Symptoms
Down syndrome is a type of genetic disorder also known as trisomy 21. It is the most common type of chromosome abnormality. The presence of chromosome 21 causes it. It is typically associated with developmental delays, intellectual disability, and distinguishing physical characteristics. Down syndrome does not have any cure.
Down syndrome is of three types:
- Trisomy 21: It is the most common type.
- Mosaic Down syndrome
- Translocation Down syndrome
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Get A Second OpinionDown Syndrome Aneuploidy:
Down syndrome is an example of aneuploidy, a chromosomal abnormality characterized by an extra or missing chromosome. In aneuploidy, there are three copies of chromosomes instead of one.
What are the Signs and Symptoms of Down Syndrome?
Individuals diagnosed with Down syndrome are almost invariably intellectually and physically disabled.
- Their immunity may be compromised
- They typically reach developmental milestones later in life.
- A multitude of health issues like epilepsy, leukaemia, thyroid disorders, etc.
Some Standard Characteristics Include:
- Short neck
- Small ears, hands and feet
- A smashed face
- Eyes that tilt up and have an almond shape
- Weak muscle tone or movable joints
- Pinky fingers
- Protruding tongue
- A solitary line running across the hand’s palm
What are the Causes of Down Syndrome?
- Extrachromosome 21 is the leading cause of physical characteristics and developmental difficulties of people with Down syndrome.
- Any error during the development of an egg leads to an extra chromosome in one cell.
- The mother’s age is the one factor that raises the likelihood of having a child with Down syndrome.
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Book an AppointmentWhat are the Differences Between Aneuploidy and Polyploidy?
Aneuploidy is a condition in which a cell may be missing one or more chromosomes or may have an excessive number of chromosomes. Examples of aneuploidy are Down syndrome, Edwards syndrome, also known as trisomy 18, and Patau syndrome, also known as trisomy 13. Conversely, polyploidy indicates the existence of additional whole sets of chromosomes.
There are two types of polyploidy:
- Autopolyploidy: the presence of the same genotype across all sets of chromosomes.
- Allopolyploidy: Presence of different genotypes across the sets of chromosomes.
Examples of polyploidy include triploidy and tetraploidy.
What is the Life Expectancy for Individuals with Down Syndrome?
People with Down syndrome have shorter life expectancies than ordinary people. Proper care can improve their life expectancy, which could be 60 years with appropriate care. Life expectancy may vary among individuals as overall health and support may impact it.
Frequently Asked Questions
The typical physical characteristics of Down syndrome are not always evident in some of the children with mosaic Down syndrome. With an average life expectancy of 60 years, people with Down syndrome will have long, happy, and healthy lives.
Yes, Down syndrome is a genetic disorder.
Down syndrome is a genetic condition that does not have any cure. It cannot be altered or removed. Symptoms can be managed with proper care and medicines.
- Short neck
- Small ears, hands and feet
- Weak muscle tone or movable joints
- Eyes that tilt up and have an almond shape
Yes, Down syndrome is a disability. The extra chromosome affects the mental health and physical appearance of the child.
The mental age of people with Down syndrome will always be 8-9 years, even if they are adults, as they always have physical and intellectual disabilities.
The only factor that increases the chance of having a child with Down syndrome is the maternal age of the mother, particularly women aged 35 and older.
For those with Down syndrome, there isn’t a single accepted treatment. A person’s unique strengths and limitations, as well as physical and intellectual needs, are taken into account while designing a treatment plan.
There is no cure for Down syndrome during pregnancy.
People with Down syndrome have many delayed developmental milestones. The majority of people with Down syndrome have mild to moderate intellectual disabilities with IQ between 50 to 60 and severe disabilities with IQ between 20 to 25.
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