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Questions and Answers
What is the cause of Down syndrome?
What is the cause of Down syndrome?
Approximately what percentage of Down syndrome cases arise due to nondisjunction?
Approximately what percentage of Down syndrome cases arise due to nondisjunction?
Which condition is significantly more common in people with Down syndrome?
Which condition is significantly more common in people with Down syndrome?
What is the most common genetic disorder leading to intellectual disability?
What is the most common genetic disorder leading to intellectual disability?
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Which physical characteristic is commonly associated with Down syndrome?
Which physical characteristic is commonly associated with Down syndrome?
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How many live births worldwide are affected by Down syndrome?
How many live births worldwide are affected by Down syndrome?
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What is a common characteristic of individuals with Down syndrome related to their immune system?
What is a common characteristic of individuals with Down syndrome related to their immune system?
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How is Down syndrome typically diagnosed before birth?
How is Down syndrome typically diagnosed before birth?
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What is the primary focus of managing Down syndrome?
What is the primary focus of managing Down syndrome?
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Why is accurate diagnosis of Down syndrome essential?
Why is accurate diagnosis of Down syndrome essential?
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What percentage of individuals with Down syndrome have congenital heart defects?
What percentage of individuals with Down syndrome have congenital heart defects?
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Study Notes
Down Syndrome
Introduction
Down syndrome is a genetic disorder characterized by intellectual disability and physical abnormalities due to the presence of an extra chromosome 21, resulting in three copies where two would normally exist. This condition, also known as trisomy 21, affects approximately 1 in every 800 live births worldwide. It is the most common genetic disorder causing intellectual disability.
Cause
Down syndrome occurs when an individual inherits an extra copy of chromosome 21. Most cases result from a random event called nondisjunction, during which chromosome 21 fails to separate properly after cell division, resulting in two daughter cells with an extra chromosome 21. Around 95% of Down syndrome cases are caused by nondisjunction.
Symptoms
Symptoms vary widely among individuals with Down syndrome, reflecting differences in the triplication of various chromosome 21 genes. However, typical features include:
- Intellectual disability: Individuals with Down syndrome generally experience varying degrees of cognitive difficulties.
- Physical characteristics: These may include facial features such as a flattened facies and upward-slanted eyes, as well as low muscle tone, loose joints, and short fingers.
Additional Conditions
People with Down syndrome are prone to numerous additional medical issues. Some notable associations are:
- Alzheimer's disease: Early onset Alzheimer's disease is significantly more common in people with Down syndrome.
- Cardiac defects: Approximately half of individuals with Down syndrome have congenital heart defects.
- Increased susceptibility to infection: People with Down syndrome tend to have less robust immune responses, making them more vulnerable to infections.
Diagnosis
Typically, Down syndrome is diagnosed before birth using ultrasound imaging techniques, such as nuchal translucency measurements, or after birth through blood tests. It is essential to diagnose Down syndrome accurately, as early intervention can improve outcomes and supportive care.
Management and Support
Management of Down syndrome primarily focuses on addressing specific symptoms and medical needs in collaboration with healthcare professionals, educators, and family members. Services may include medical care, therapies, family support, and special education programs tailored to meet the unique requirements of individuals with Down syndrome.
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Description
Learn about the genetic disorder Down syndrome, characterized by intellectual disability and physical abnormalities due to an extra chromosome 21. Explore causes, symptoms, associated medical conditions, diagnosis methods, and management strategies.
