Genetic Disorders and Clinical Services
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Questions and Answers

What are hemoglobinopathies primarily associated with?

  • Micronutrient deficiencies
  • Immune system disorders
  • Vitamin deficiencies
  • Disorders of the hemoglobin chain (correct)
  • What is the primary aim of genetic counselling?

  • To provide educational resources
  • To help individuals understand and manage genetic disorder risks (correct)
  • To provide clinical treatment plans
  • To diagnose genetic disorders
  • Which of the following best describes presymptomatic genetic diagnosis?

  • Confirms existence of a genetic disorder
  • Establishes whether a disorder is hereditary
  • Provides treatment options for existing symptoms
  • Predicts onset of symptoms in the future (correct)
  • What role does genetic assessment play?

    <p>Helps in understanding the diagnosis and choosing actions</p> Signup and view all the answers

    Thalassemia is classified under which type of disorder?

    <p>Structural hemoglobinopathy</p> Signup and view all the answers

    Which of the following indicates an increased risk of developing a condition later in life?

    <p>Susceptibility identification</p> Signup and view all the answers

    Which service does cytogenetics provide?

    <p>Prenatal and neonatal screening for congenital disorders</p> Signup and view all the answers

    What does the estimation of risk in genetic diagnosis focus on?

    <p>Assessing the likelihood of transmission of genetic disorders</p> Signup and view all the answers

    What is the primary focus of medical genetics?

    <p>Human biological variation and its health implications</p> Signup and view all the answers

    Which of the following statements describes autosomal dominant inheritance?

    <p>Affected children usually have affected parents.</p> Signup and view all the answers

    Which milestone in medical genetics was established in 1941 in the USA?

    <p>Medical genetics counseling</p> Signup and view all the answers

    How does Hardy-Weinberg principle contribute to genetics?

    <p>Calculating carrier frequencies</p> Signup and view all the answers

    Which type of genetic disorder typically does NOT have skipped generations?

    <p>Autosomal dominant disorders</p> Signup and view all the answers

    What is a significant characteristic of autosomal recessive inheritance?

    <p>Both males and females are equally affected.</p> Signup and view all the answers

    Which disorder is commonly associated with autosomal dominant inheritance?

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

    What is NOT a characteristic feature of autosomal dominant inheritance?

    <p>Presence of carrier states</p> Signup and view all the answers

    What is the primary role of the Clinical Genetics Unit?

    <p>To provide clinical services and counselling for families at risk of genetic diseases.</p> Signup and view all the answers

    Which of the following describes a proband?

    <p>The person showing symptoms of a genetic condition.</p> Signup and view all the answers

    What type of diagnostic testing is offered by the Biochemical Genetics Unit?

    <p>Testing for metabolic disorders such as maple syrup urine disease.</p> Signup and view all the answers

    Why are there no genetic counsellors in the Philippines?

    <p>There is a lack of training programs for genetic counselling.</p> Signup and view all the answers

    Which of the following is NOT mentioned as a key function of the Molecular Genetics Unit?

    <p>Providing clinical consultations for families.</p> Signup and view all the answers

    Which of the following health conditions is associated with the Biochemical Genetics Unit?

    <p>Phenylketonuria.</p> Signup and view all the answers

    What is the primary method used in the Molecular Genetics Unit for studying genes?

    <p>DNA sequencing.</p> Signup and view all the answers

    What type of patient typically visits the out-patient service at a clinical genetics unit?

    <p>Individuals seeking information without a known diagnosis.</p> Signup and view all the answers

    Which disorder is caused by having only one altered copy of the gene?

    <p>Angelman Syndrome</p> Signup and view all the answers

    Which of the following is not a disorder mentioned in the context?

    <p>Sickle Cell Anemia</p> Signup and view all the answers

    Which prenatal diagnostic option is specifically used to sample the placenta?

    <p>Chorionic Villus Sampling</p> Signup and view all the answers

    What does fluorescence in-situ hybridization (FISH) analysis diagnose?

    <p>Trisomy disorders</p> Signup and view all the answers

    What genetic condition is characterized by a deficiency of the G6PD enzyme?

    <p>Glucose-6-Phosphatase Deficiency (G6PD)</p> Signup and view all the answers

    Which of the following is not a confirmation method for genetic disorders?

    <p>Clinical Symptoms Observation</p> Signup and view all the answers

    What is one of the main providers of genetic services in the Philippines?

    <p>Institute of Human Genetics</p> Signup and view all the answers

    Which of the following disorders is characterized by a mutation leading to abnormally high levels of factors in the blood?

    <p>Hemophilia A</p> Signup and view all the answers

    What is the concept of consanguinity associated with in the context of genetic disorders?

    <p>Increased risk of multifactorial disorders</p> Signup and view all the answers

    Which of the following best describes the concept of informed consent in healthcare?

    <p>A process involving risks and benefits disclosure</p> Signup and view all the answers

    What psychosocial issue may parents face regarding their role in genetic transmission?

    <p>Guilt and blame for passing genes</p> Signup and view all the answers

    Which type of genetic disorder primarily increases with consanguinity?

    <p>Autosomal recessive disorders</p> Signup and view all the answers

    What is a common consequence related to reproductive decision-making influenced by genetic risks?

    <p>Deciding not to have children</p> Signup and view all the answers

    Which of the following is a legal and ethical issue relevant to genetic testing?

    <p>Informed consent process</p> Signup and view all the answers

    What is the Westermarck Effect in relation to inbreeding avoidance?

    <p>Emotional attachment leading to reproductive avoidance</p> Signup and view all the answers

    What kind of support might be necessary for parents after a bereavement related to genetic conditions?

    <p>Long-term emotional and social support</p> Signup and view all the answers

    Study Notes

    Genetic Disorders

    • Angelman Syndrome, Edouard Syndrome, Down Syndrome, and Turner Syndrome are common genetic disorders with various inheritance patterns.
    • Duchenne Muscular Dystrophy and Fragile X Syndrome are also prevalent disorders affecting individuals, particularly males.
    • Hemophilia A and B are genetic bleeding disorders requiring only one altered gene copy for expression.

    Genetic Clinical Services

    • Services include prenatal diagnosis (e.g., ultrasound, amniocentesis) and postnatal routine karyotyping.
    • Genetic clinics provide confirmation of disorders, counseling, investigation, and prenatal diagnosis information.
    • Major providers of genetic services in the Philippines include the Institute of Human Genetics and UP Manila.

    Genetic Units and Their Functions

    • Clinical Genetics Unit offers clinical services and metabolic disorder management.
    • Molecular Genetics Unit focuses on research of genetic conditions via techniques like DNA sequencing.
    • Biochemical Genetics Unit specializes in diagnosing metabolic disorders such as Phenylketonuria.
    • Hemoglobinopathy Unit addresses disorders of the hemoglobin chain, resulting in conditions like thalassemia.

    Genetic Counseling

    • Aims to support individuals/families in understanding genetic disorders and their implications.
    • Helps in adjusting to the psychosocial impact of genetic conditions.
    • Provides guidance on diagnosis, risk of transmission, prognosis, and follow-up care.

    Genetic Diagnosis

    • Establishes precise diagnosis of genetic disorders.
    • Involves several types of diagnostic classifications:
      • Diagnostic confirms a known condition.
      • Presymptomatic predicts future symptoms.
      • Susceptibility assesses risks for future genetic diseases.

    Inheritance Patterns

    • Clinical genetics involved in examining hereditary traits through pedigree charts.
    • Autosomal dominant inheritance results in affected children typically having affected parents, with equal likelihood of transmission among genders.
    • Autosomal recessive inheritance may have carriers, but not all carriers show symptoms.

    Consanguinity

    • Refers to individuals descended from the same ancestor; linked with higher risks of inborn metabolic errors.
    • Increases incidence of multifactorial disorders, such as diabetes and certain cancers.
    • Inbreeding considerations include guilt, reproductive decision-making, and the effects on extended family.
    • Informed consent is crucial for procedures in genetic healthcare, ensuring that patients understand risks and benefits.
    • Ethical considerations include balancing personal choices with familial impact and societal norms.

    Psychosocial Considerations

    • Guilt from perceived genetic transmission may affect parents.
    • Decisions about reproduction can be influenced by genetic conditions' implications for offspring.
    • Support needed post bereavement or when navigating a loved one's genetic health challenges.

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    Related Documents

    Module 1 Cytogenetics PDF

    Description

    This quiz covers common genetic disorders such as Angelman Syndrome, Down Syndrome, and Duchenne Muscular Dystrophy, including their inheritance patterns. It also explores genetic clinical services like prenatal diagnosis and the role of specialized genetic units in managing these disorders. Test your knowledge on the intricacies of genetics!

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