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Fragile X Syndrome and Cystic Fibrosis Overview
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Fragile X Syndrome and Cystic Fibrosis Overview

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Questions and Answers

What genetic mutation causes Fragile X Syndrome?

  • Deletion of the FMR1 gene
  • Translocation involving the X chromosome
  • Point mutation in the FMR1 gene
  • Expansion of CGG repeats in the FMR1 gene (correct)

    • Which symptom is NOT typically associated with fragile X syndrome?

  • Anxiety and obsessive-compulsive behavior
  • Reduced physical activity (correct)
  • Learning disabilities
  • Delayed speech and language development

    • Which of the following is a characteristic physical feature of individuals with Fragile X Syndrome?

  • Short stature
  • Broad shoulders
  • Long narrow face (correct)
  • Prominent cheekbones

    • What is the average IQ of individuals with Fragile X Syndrome?

    <p>40</p> Signup and view all the answers

    What is the primary purpose of amniocentesis in relation to fragile X syndrome?

    <p>To test for chromosomal differences and conditions</p> Signup and view all the answers

    Why are females less likely to exhibit severe symptoms of Fragile X Syndrome compared to males?

    <p>They have two X chromosomes allowing some gene function</p> Signup and view all the answers

    What does the FMR1 gene code for?

    <p>Fragile X messenger ribonucleoprotein</p> Signup and view all the answers

    Which evaluation method involves taking a sample of cells from the placenta?

    <p>Chorionic villus sampling</p> Signup and view all the answers

    Which of the following conditions is individuals with Fragile X Syndrome prone to develop?

    <p>Autism</p> Signup and view all the answers

    What behavioral issue might children with fragile X syndrome experience?

    <p>Social withdrawal</p> Signup and view all the answers

    What is termed a 'premutation' in the context of Fragile X Syndrome?

    <p>Between 55 to 200 CGG repeats</p> Signup and view all the answers

    What is the alternate name for Fragile X Syndrome?

    <p>Martin-Bell Syndrome</p> Signup and view all the answers

    Which testing method can be performed in two ways, transcervical and transabdominal?

    <p>Chorionic villus sampling</p> Signup and view all the answers

    Which of the following statements regarding Fragile X Syndrome is correct?

    <p>It can lead to developmental delays and behavioral issues.</p> Signup and view all the answers

    Which of the following statements regarding prenatal testing is true?

    <p>It assesses the risk for various genetic conditions.</p> Signup and view all the answers

    What condition can be detected through chorionic villus sampling?

    <p>Fragile X syndrome</p> Signup and view all the answers

    What is the primary purpose of a sweat chloride test in diagnosing cystic fibrosis?

    <p>To measure the concentration of salt in sweat</p> Signup and view all the answers

    Which CFTR modulator is NOT mentioned as transforming the treatment of cystic fibrosis?

    <p>Terbutaline</p> Signup and view all the answers

    At what stage in life is cystic fibrosis most commonly diagnosed?

    <p>Soon after birth through newborn screening</p> Signup and view all the answers

    What is genetic testing used for in the context of cystic fibrosis treatment?

    <p>Customizing medicines based on CFTR variations</p> Signup and view all the answers

    Which procedure is emphasized as being painless in the diagnostic evaluation of cystic fibrosis?

    <p>Sweat test</p> Signup and view all the answers

    What component is critical for routine clinic visits for patients with cystic fibrosis?

    <p>Checking pulmonary function</p> Signup and view all the answers

    What is the role of CFTR modulators in the treatment of cystic fibrosis?

    <p>They improve lung function and stabilize the disease</p> Signup and view all the answers

    Which diagnostic method directly assesses the function of the CFTR protein?

    <p>Sweat chloride test</p> Signup and view all the answers

    Which symptom is commonly associated with respiratory issues due to sticky mucus in cystic fibrosis?

    <p>Persistent cough that produces thick mucus</p> Signup and view all the answers

    What is a common digestive symptom observed in patients with cystic fibrosis?

    <p>Severe constipation</p> Signup and view all the answers

    What is the purpose of the sweat chloride test in diagnosing cystic fibrosis?

    <p>To collect sweat as a diagnostic sample</p> Signup and view all the answers

    Which factor is NOT a symptom of digestive issues in cystic fibrosis?

    <p>Exercise intolerance</p> Signup and view all the answers

    What does genetic testing for cystic fibrosis involve?

    <p>Examining your DNA for mutations</p> Signup and view all the answers

    What is a potential risk associated with untreated respiratory symptoms in cystic fibrosis?

    <p>Chronic lung disease</p> Signup and view all the answers

    Which care practice is incorporated to ensure quality of life for individuals with cystic fibrosis?

    <p>Standard care guidelines based on research</p> Signup and view all the answers

    Which of the following is NOT a respiratory sign of cystic fibrosis?

    <p>Foul-smelling stools</p> Signup and view all the answers

    What is the primary consequence of a nonsense mutation in the CFTR protein?

    <p>It leads to premature termination of protein production.</p> Signup and view all the answers

    Which type of mutation is characterized by the addition of an incorrect amino acid into the CFTR protein?

    <p>Protein processing mutation</p> Signup and view all the answers

    What role does Kalydeco® (ivacaftor) play for individuals with gating mutations?

    <p>It forces the gate of the CFTR protein to open.</p> Signup and view all the answers

    What happens as a result of insufficient protein mutations in CFTR?

    <p>Normal CFTR protein levels are reduced at the cell surface.</p> Signup and view all the answers

    What is the effect of conduction mutations on the CFTR protein?

    <p>They alter the channel's shape affecting function.</p> Signup and view all the answers

    Which of the following correctly describes missense mutations?

    <p>They introduce incorrect amino acids into the protein.</p> Signup and view all the answers

    What is a characteristic effect of protein processing mutations like F508del?

    <p>They reduce the normal functioning of protein processing.</p> Signup and view all the answers

    Cystic fibrosis results from which type of genetic mutation primarily affecting the CFTR protein?

    <p>A variety of mutations including protein production, processing, and gating</p> Signup and view all the answers

    Study Notes

    Fragile X Syndrome

    • A genetic disorder caused by a mutation on the X chromosome, leading to developmental delays, intellectual disabilities, and behavioral issues.
    • Also known as Martin-Bell syndrome; boys exhibit more severe symptoms compared to girls.
    • Characterized by the expansion of CGG repeats in the FMR1 gene, with normal ranges between 5 to 44 repeats, premutation at 55 to 200 repeats, and full mutation at over 200 repeats.
    • Symptoms include long narrow face, large forehead, and behavioral issues like autism and ADHD.
    • Affects intelligence, with average IQ around 40, delayed speech, short-term memory issues, anxiety, seizures, and risk of depression.
    • Diagnosed via DNA sampling, amniocentesis, and various prenatal tests evaluating FMR1 gene mutations.

    Cystic Fibrosis

    • A lifelong genetic condition caused by mutations in the CFTR gene, affecting respiratory and digestive systems.
    • Mutations can disrupt protein production, processing, gating, conduction, or result in insufficient CFTR protein function.
    • Symptoms include persistent cough with thick mucus, wheezing, breathlessness, poor weight gain, and risk of digestive diseases like diabetes.
    • Diagnosed using a multi-step approach, including newborn screening, sweat chloride tests, and genetic testing.
    • Management involves CFTR modulators (ivacaftor, lumacaftor, tezacaftor, elexacaftor) to improve lung function and nutritional status.
    • Regular clinic visits are essential for monitoring lung function and ensuring effective management of cystic fibrosis symptoms.

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    Related Documents

    fragile-x-syndrome-and-cystic-fibrosis-activity-3-1.pdf

    Description

    This introductory quiz covers key aspects of Fragile X Syndrome and Cystic Fibrosis. Participants will learn to define these genetic disorders, understand their characteristics, and differentiate between them. Strengthen your knowledge about the genetics behind Fragile X and associated information about cystic fibrosis.

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