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Questions and Answers
What is the genetic basis of trisomy 21?
What is the genetic basis of trisomy 21?
The presence of an extra copy of chromosome 21.
What is the approximate incidence of trisomy 21 in births?
What is the approximate incidence of trisomy 21 in births?
1 in every 700 births.
What is a common physical characteristic of trisomy 21?
What is a common physical characteristic of trisomy 21?
Short stature and small head size.
What is a developmental feature of trisomy 21?
What is a developmental feature of trisomy 21?
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What is a common health complication associated with trisomy 21?
What is a common health complication associated with trisomy 21?
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How is trisomy 21 diagnosed prenatally?
How is trisomy 21 diagnosed prenatally?
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What is the primary focus of treatment for trisomy 21?
What is the primary focus of treatment for trisomy 21?
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What is a potential surgical intervention for individuals with trisomy 21?
What is a potential surgical intervention for individuals with trisomy 21?
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What is the main cause of intellectual disability in individuals with trisomy 21?
What is the main cause of intellectual disability in individuals with trisomy 21?
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What is a common complication of trisomy 21 in the cardiac system?
What is a common complication of trisomy 21 in the cardiac system?
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How does trisomy 21 affect the immune system?
How does trisomy 21 affect the immune system?
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What is a common complication of trisomy 21 in the gastrointestinal system?
What is a common complication of trisomy 21 in the gastrointestinal system?
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How does trisomy 21 affect an individual's risk of developing certain cancers?
How does trisomy 21 affect an individual's risk of developing certain cancers?
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Study Notes
Definition and Causes
- Trisomy 21 is a genetic disorder caused by the presence of an extra copy of chromosome 21.
- It is the most common chromosomal anomaly, occurring in approximately 1 in every 700 births.
- The extra genetic material from the extra chromosome 21 leads to the characteristic physical and developmental features of the disorder.
Physical Characteristics
- Short stature and small head size
- Flat face with a small nose and eyes that are close together
- Small ears and hands
- Poor muscle tone
- Increased risk of congenital heart defects (40-50% of cases)
Developmental and Cognitive Features
- Delayed speech and language development
- Intellectual disability (range from mild to moderate)
- Delayed cognitive development
- Increased risk of attention deficit hyperactivity disorder (ADHD)
Health Complications
- Increased risk of infections (e.g. respiratory, ear, and skin)
- Increased risk of vision and hearing problems
- Increased risk of thyroid disorders
- Increased risk of leukemia and other cancers
- Respiratory problems (e.g. sleep apnea)
Diagnosis
- Prenatal diagnosis: chorionic villus sampling (CVS) or amniocentesis
- Postnatal diagnosis: physical examination and chromosomal analysis (karyotype)
Treatment and Management
- No cure for trisomy 21, but treatment focuses on managing the associated health problems
- Speech and language therapy
- Occupational therapy
- Physical therapy
- Medications for associated health problems (e.g. heart defects, thyroid disorders)
- Surgical interventions for congenital heart defects and other physical abnormalities
Definition and Causes
- Trisomy 21 is a genetic disorder caused by an extra copy of chromosome 21, occurring in approximately 1 in every 700 births.
Physical Characteristics
- Individuals with trisomy 21 typically have short stature and small head size.
- Facial features include a flat face, small nose, and eyes that are close together.
- Other physical characteristics include small ears and hands.
- They often have poor muscle tone and an increased risk of congenital heart defects (40-50% of cases).
Developmental and Cognitive Features
- Trisomy 21 is associated with delayed speech and language development.
- Intellectual disability is common, ranging from mild to moderate.
- Delayed cognitive development is also typical.
- There is an increased risk of attention deficit hyperactivity disorder (ADHD).
Health Complications
- Individuals with trisomy 21 are more prone to infections, such as respiratory, ear, and skin infections.
- Vision and hearing problems are also more common.
- There is an increased risk of thyroid disorders and leukemia, as well as other cancers.
- Respiratory problems, including sleep apnea, are common.
Diagnosis
- Prenatal diagnosis can be made through chorionic villus sampling (CVS) or amniocentesis.
- Postnatal diagnosis is made through physical examination and chromosomal analysis (karyotype).
Treatment and Management
- While there is no cure for trisomy 21, treatment focuses on managing associated health problems.
- Therapy programs include speech and language therapy, occupational therapy, and physical therapy.
- Medications may be prescribed to manage associated health problems, such as heart defects and thyroid disorders.
- Surgical interventions may be necessary to address congenital heart defects and other physical abnormalities.
Definition and Causes
- Trisomy 21 is a genetic disorder caused by an extra copy of chromosome 21.
- Occurs in approximately 1 in every 700 births.
- The extra genetic material leads to characteristic physical and developmental features.
Physical Characteristics
- Short stature and small head size.
- Flat face with a small nose and eyes that are close together.
- Small ears and hands.
- Poor muscle tone.
- Increased risk of congenital heart defects (40-50% of cases).
Developmental and Cognitive Features
- Delayed speech and language development.
- Intellectual disability (range from mild to moderate).
- Delayed cognitive development.
- Increased risk of attention deficit hyperactivity disorder (ADHD).
Health Complications
- Increased risk of infections (respiratory, ear, and skin).
- Increased risk of vision and hearing problems.
- Increased risk of thyroid disorders.
- Increased risk of leukemia and other cancers.
- Respiratory problems (e.g. sleep apnea).
Diagnosis
- Prenatal diagnosis: chorionic villus sampling (CVS) or amniocentesis.
- Postnatal diagnosis: physical examination and chromosomal analysis (karyotype).
Treatment and Management
- No cure for trisomy 21, but treatment focuses on managing associated health problems.
- Speech and language therapy.
- Occupational therapy.
- Physical therapy.
- Medications for associated health problems (e.g. heart defects, thyroid disorders).
- Surgical interventions for congenital heart defects and other physical abnormalities.
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Description
Learn about the genetic disorder Trisomy 21, its causes, and its physical characteristics. Understand the effects of an extra chromosome 21 on development and physical features.
