Podcast
Questions and Answers
Which of the following best describes Fragile X Syndrome (FXS)?
Which of the following best describes Fragile X Syndrome (FXS)?
- A developmental disorder causing heart defects and distinctive facial features.
- A condition caused by an extra copy of chromosome 21.
- A disease that affects the body's ability to use glucose.
- A genetic disorder caused by changes in the FMR1 gene. (correct)
In Fragile X Syndrome, individuals always completely lack the FMRP protein.
In Fragile X Syndrome, individuals always completely lack the FMRP protein.
False (B)
What is the name of the protein that is affected in Fragile X Syndrome, leading to brain development issues?
What is the name of the protein that is affected in Fragile X Syndrome, leading to brain development issues?
FMRP
Treatment for Fragile X Syndrome focuses on helping with ______ acquisition.
Treatment for Fragile X Syndrome focuses on helping with ______ acquisition.
Match the following genetic conditions with their descriptions:
Match the following genetic conditions with their descriptions:
Why might prevalence numbers for Fragile X Syndrome be estimates rather than exact figures?
Why might prevalence numbers for Fragile X Syndrome be estimates rather than exact figures?
The symptoms of 22q11.2 deletion syndrome are consistent across all individuals with the condition.
The symptoms of 22q11.2 deletion syndrome are consistent across all individuals with the condition.
What chromosome is affected in 22q11.2 deletion syndrome?
What chromosome is affected in 22q11.2 deletion syndrome?
In 22q11.2 deletion syndrome, body systems develop poorly because a part of chromosome 22 is ______.
In 22q11.2 deletion syndrome, body systems develop poorly because a part of chromosome 22 is ______.
Which of the following health issues is NOT typically associated with 22q11.2 deletion?
Which of the following health issues is NOT typically associated with 22q11.2 deletion?
22q11.2 deletion is always inherited from a parent.
22q11.2 deletion is always inherited from a parent.
What number designates the region of chromosome 22 that is deleted in 22q11.2 deletion syndrome?
What number designates the region of chromosome 22 that is deleted in 22q11.2 deletion syndrome?
Management of the accompanying symptoms and a ______ team is the focus on treatments for 22q11.2 deletion syndrome.
Management of the accompanying symptoms and a ______ team is the focus on treatments for 22q11.2 deletion syndrome.
Which of the following statements relating to 1p36 deletion syndrome inheritance is most accurate?
Which of the following statements relating to 1p36 deletion syndrome inheritance is most accurate?
There is a cure for 1p36 deletion syndrome.
There is a cure for 1p36 deletion syndrome.
What does a 'deletion' refer to within the context of genetic disorders like 1p36 deletion?
What does a 'deletion' refer to within the context of genetic disorders like 1p36 deletion?
______ abnormalities of the brain are a symptom of 1p36 deletion syndrome.
______ abnormalities of the brain are a symptom of 1p36 deletion syndrome.
Which of the following is NOT a typical symptom associated with 1p36 deletion syndrome?
Which of the following is NOT a typical symptom associated with 1p36 deletion syndrome?
1p36 deletion syndrome is estimated to affect 1 in 1,100 newborns each year.
1p36 deletion syndrome is estimated to affect 1 in 1,100 newborns each year.
Match the following genetic terms with their descriptions:
Match the following genetic terms with their descriptions:
Flashcards
Fragile X Syndrome (FXS)
Fragile X Syndrome (FXS)
A genetic disorder and one of the most common causes of inherited intellectual disability.
FXS Cause
FXS Cause
Caused by changes in the fragile X messenger ribonucleoprotein 1 (FMR1) gene. This gene makes FMRP that is needed for brain development.
FXS Symptoms
FXS Symptoms
Developmental delays, learning disabilities, and social and behavior problems.
FXS Diagnosis
FXS Diagnosis
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22q11.2 Deletion Definition
22q11.2 Deletion Definition
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22q11.2 Deletion Symptoms
22q11.2 Deletion Symptoms
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Cause of 22q11.2 Deletion
Cause of 22q11.2 Deletion
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Complications of 22q11.2 Deletion
Complications of 22q11.2 Deletion
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1p36 Deletion
1p36 Deletion
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1p36 Deletion Symptoms
1p36 Deletion Symptoms
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Study Notes
Fragile X Syndrome (FXS)
- FXS is a genetic disorder.
- It is one of the most prevalent causes of inherited intellectual disability.
- FXS affects both males and females.
- Females often exhibit milder symptoms compared to males.
- There is no cure for FXS, but treatment can aid in skill acquisition.
- FXS is caused by changes in the fragile X messenger ribonucleoprotein 1 (FMR1) gene.
- The FMR1 gene produces a protein called FMRP, essential for brain development.
- Individuals with FXS do not produce this protein.
- Some individuals with fragile X-associated disorders have changes in the FMR1 gene and still produce some of the protein.
- It's estimated to affect 1 in 7,000 males.
- It's estimated to affect 1 in 1,100 females.
- Signs and Symptoms include missing developmental milestones, learning disabilities, and social and behavior problems.
- FXS is diagnosed through DNA testing which can indicate FXS or just changes in the FMR1 gene.
- There is no cure, but treatment options can help with development.
22q11.2 Deletion
- Body systems develop poorly because of a missing part of chromosome 22.
- Additional medical problems arise from this deletion.
- The number and severity of symptoms vary by individual.
- Symptoms vary based on which body systems are affected and the severity of the problems.
- Symptoms may be clear at birth but may be diagnosed at any stage in life.
- Other Symptoms include heart issues, frequent infections, distinctive facial features, hearing loss and/or poor vision, poor muscle tone, kidney issues, scoliosis, and calcium deficiencies.
- The cause is that one copy of chromosome 22 is missing a segment.
- The specific region of chromosome 22 that's deleted is 22q11.2.
- It usually occurs as a random event at conception.
- The deletion can be maternal or paternal in origin.
- Complications include heart issues, hypoparathyroidism, thymus gland dysfunction, cleft palate, learning, behavioral and mental health problems, and autoimmune conditions.
- Treatment involves management of the accompanying symptoms.
- A multi-specialist team is often necessary.
1p36 Deletion
- This deletion involves the loss of genetic material from chromosome 1.
- Most cases are not inherited.
- It causes severe intellectual disability.
- It can lead to other health complications.
- Causes included genetic mutations and chromosomal changes.
- Symptoms may appear in pregnancy and as a newborn.
- Severe intellectual disability and lack of language development are common symptoms.
- Structural abnormalities of the brain like seizures are common.
- Other Symptoms include hypotonia, dysphagia and certain physical characteristics.
- It is estimated to affect 1 in 5,000 newborns each year.
- Other names are Chromosome 1p36 deletion syndrome, Distal monosomy 1p36 and Monosomy 1p36 syndrome.
- There is no cure, treatment focuses on relieving symptoms.
- Possible medical intervention, including endocrine and neurologic manifestations in addition to anti-seizure mediations.
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Description
Fragile X Syndrome (FXS) is a genetic disorder and a leading cause of inherited intellectual disability, affecting both males and females. It results from changes in the FMR1 gene, which is vital for brain development. While there is no cure, treatment options can help manage symptoms and improve skill acquisition.
