Autosomal Dominant Disorders Inheritance Quiz
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Questions and Answers

In autosomal dominant disorders, if two heterozygous individuals have a child, what is the probability that the child will be homozygous dominant?

  • 50%
  • 75%
  • 25%
  • 0% (correct)

    • Which statement is true regarding the inheritance of autosomal dominant disorders?

  • The sex of the affected individual affects the inheritance pattern.
  • One of the parents of a child with the disorder will also have the disorder. (correct)
  • Both parents of a child with the disorder are disease-free.
  • There is usually no family history of the disorder.

    • What is the chance that a child born to parents who are carriers of an autosomal recessive disease will be homozygous recessive for the disease?

  • 0%
  • 50%
  • 10%
  • 25% (correct)

    • What characterizes autosomal recessive inheritance?

    <p>Diseases only occur if two genes for the disease are present.</p> Signup and view all the answers

    'Heterozygous' in the context of autosomal dominant disorders means:

    <p>Carrying one gene causing the disease.</p> Signup and view all the answers

    'Homozygous recessive' in autosomal recessive diseases refers to an individual who:

    <p>Has two unhealthy genes.</p> Signup and view all the answers

    What is the purpose of documenting the family's ethnic background in genetic disorders assessment?

    <p>To determine if environmental conditions could account for a condition</p> Signup and view all the answers

    What should be carefully inspected in newborns during genetic disorders assessment?

    <p>Number of fingers and toes</p> Signup and view all the answers

    When is a physical assessment needed in genetic disorders assessment?

    <p>For any family member with a disorder, child's siblings, and the couple seeking counseling</p> Signup and view all the answers

    What is the purpose of karyotyping in diagnostic testing for genetic disorders?

    <p>To identify the size, shape, and stain of chromosomes</p> Signup and view all the answers

    Why is it important to inspect certain body areas like the space between the eyes during genetic disorders assessment?

    <p>To identify potential chromosomal disorders through physical characteristics</p> Signup and view all the answers

    What is the significance of infants born less than 35 weeks' gestation in genetic disorders assessment?

    <p>They need extremely close assessment if parents have other children with chromosomal disorders</p> Signup and view all the answers

    In X-Linked Recessive Inheritance, why do only males in the family have the disorder?

    <p>Males inherit the gene from both parents, leading to manifestation of the disorder.</p> Signup and view all the answers

    Why do sons of an affected man remain unaffected in X-Linked Recessive Inheritance?

    <p>They receive a normal X chromosome from their father, compensating for the affected one from their mother.</p> Signup and view all the answers

    What is a characteristic feature of X-Linked Dominant Inheritance?

    <p>All female children of affected men are affected.</p> Signup and view all the answers

    Why does the X-Linked Recessive Inheritance disorder lead to a history of girls dying at birth for unknown reasons?

    <p>Female children inherit one normal X chromosome and one affected X chromosome.</p> Signup and view all the answers

    Why do the parents of children with X-Linked Recessive Inheritance disorders not have the disorders themselves?

    <p>The parents are carriers and do not manifest symptoms.</p> Signup and view all the answers

    What makes X-Linked Dominant Inheritance different from X-Linked Recessive Inheritance?

    <p>X-Linked Dominant appears in every generation, while X-Linked Recessive skips generations.</p> Signup and view all the answers

    What is the result of chromosomal abnormalities due to nondisjunction during cell division?

    <p>One new sperm cell or ovum has 24 chromosomes and the other has 22.</p> Signup and view all the answers

    How does imprinting contribute to identifying chromosomal material from parents?

    <p>It involves the selective expression of genetic material inherited from only one parent.</p> Signup and view all the answers

    Which statement best describes multifactorial (polygenic) inheritance?

    <p>It involves combinations of multiple genes along with environmental factors.</p> Signup and view all the answers

    Why is it stated that 45 chromosomes are not compatible with life?

    <p>It results in an abnormal number of chromosomes that is not viable for survival.</p> Signup and view all the answers

    How do chromosomal abnormalities manifest if one spermatozoa or ovum has 24 chromosomes?

    <p>If it fuses with a normal spermatozoa or ovum, the zygote will have either 47 or 45 chromosomes.</p> Signup and view all the answers

    What characterizes Fragile X syndrome among the listed disorders?

    <p>Fragile X syndrome is a cognitive challenge syndrome involving learning and behavioral difficulties.</p> Signup and view all the answers

    What is the peak timing for Alpha-fetoprotein (AFP) in maternal serum during pregnancy?

    <p>Between the 13th and 32nd week of pregnancy</p> Signup and view all the answers

    What is a common reason for false positives in Maternal Serum Screening Alpha-fetoprotein (AFP)?

    <p>Inaccurate documentation of the date of conception</p> Signup and view all the answers

    At what week of pregnancy can Chorionic Villi Sampling be typically performed?

    <p>Week 5</p> Signup and view all the answers

    What is the purpose of Rh immune globulin administration after Chorionic Villi Sampling for women with Rh-negative blood type?

    <p>To guard against isoimmunization in the fetus</p> Signup and view all the answers

    Why should cells be removed separately from each placenta in cases of twin or multiple pregnancies during Chorionic Villi Sampling?

    <p>To ensure accurate karyotyping and DNA analysis</p> Signup and view all the answers

    At what time during pregnancy is Amniocentesis typically performed?

    <p>14th - 16th week</p> Signup and view all the answers

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