BRS Embryo Multifactorial Inherited Diseases - Numerical Chromosomal Anomalies

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| By Rossstudent
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  • 1/19 Questions

    Which of the following aneuploidy situations describes the Turner syndrome?

    • Trisomy 13
    • Trisomy 18
    • Trisomy 21
    • (47,XXY)
    • (45,X)
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About This Quiz

Explore multifactorial inherited diseases and numerical chromosomal anomalies, including conditions like Klinefelter and Patau syndromes. Understand the genetic and environmental components of diseases like Type I diabetes, and learn about chromosomal conditions such as triploidy and aneuploidy.

BRS Embryo Multifactorial Inherited Diseases - Numerical Chromosomal Anomalies - Quiz

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  • 2. 

    Which of the following is due to chromosomal breakage caused by sunlight or UV radiation?

    • Angelman syndrome

    • Fragile X syndrome

    • Miller-Dieker syndrome

    • Prader-Willi syndrome

    • Xeroderma pigmentosum

    Correct Answer
    A. Xeroderma pigmentosum
    Explanation
    Xeroderma pigmentosum is an autosomal recessive genetic disorder in which affected individuals are hypersensitive to sunlight.

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  • 3. 

    Multifactorial inherited diseases involve which of the following?

    • Only a genetic component

    • Only an environmental component

    • Both a genetic and environmental component

    • Only one dominant gene

    • Only one X-linked gene

    Correct Answer
    A. Both a genetic and environmental component
    Explanation
    A multifactorial disease involves many genes that have a small, equal, and additive effect
    as well as an environmental component.

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  • 4. 

    Which of the following aneuploidy situations describes the Klinefelter syndrome?

    • Trisomy 13

    • Trisomy 18

    • Trisomy 21

    • (47,XXY)

    • (45,X)

    Correct Answer
    A. (47,XXY)
    Explanation
    Klinefelter syndrome is a trisomic condition found only in males characterized by a
    (47,XXY) karyotype.

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  • 5. 

    STRUCTURAL CHROMOSOMAL ABNORMALITIES Cri du chat syndrome is characterized by which of the following?

    • Catlike cry

    • Greek warrior helmet

    • Absence of the thymus gland

    • Chromosome 15q11-13 maternal imprinting

    • Chromosome 15q11-13 paternal imprinting

    Correct Answer
    A. Catlike cry
    Explanation
    The cri du chat syndrome is also called cat's cry syndrome because affected children demonstrate a catlike cry.

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  • 6. 

    DiGeorge syndrome is characterized by which of the following?

    • Catlike cry

    • Greek warrior helmet

    • Absence of the thymus gland

    • Chromosome 15q11-13 maternal imprinting

    • Chromosome 15q11-13 paternal imprinting

    Correct Answer
    A. Absence of the thymus gland
    Explanation
    DiGeorge syndrome is characterized by immunodeficiency due to the absence of the thymus gland and by hypocalcemia due to the absence of the parathyroid glands.

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  • 7. 

    Duchenne muscular dystrophy demonstrates which of the following inheritance patterns?

    • Mitochondrial inheritance

    • X-linked recessive

    • Autosomal dominant

    • Autosomal recessive

    Correct Answer
    A. X-linked recessive
    Explanation
    Duchenne muscular dystrophy demonstrates an X-linked recessive inheritance pattern

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  • 8. 

    Huntington disease demonstrates which of the following inheritance patterns?

    • Mitochondrial inheritance

    • X-linked recessive

    • Autosomal dominant

    • Autosomal recessive

    Correct Answer
    A. Autosomal dominant
    Explanation
    Huntington disease demonstrates an autosomal dominant inheritance pattern.

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  • 9. 

    Aneuploidy occurs as a result of which of the following?

    • Dispermy

    • Failure of meiosis in a germ cell

    • Failure of the first cleavage division

    • Nondisjunction during meiosis

    • Trispermy

    Correct Answer
    A. Nondisjunction during meiosis
    Explanation
    Aneuploidy occurs as result of nondisjunction during meiosis

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  • 10. 

    Which of the following genetic diseases involves a mutation in a Cl- channel?

    • Huntington disease

    • Cystic fibrosis

    • Duchenne muscular dystrophy

    • Leber hereditary optic neuropathy

    Correct Answer
    A. Cystic fibrosis
    Explanation
    B. Cystic fibrosis is an autosomal recessive disease that involves a mutation in the CF gene that
    encodes for a Cl- channel.

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  • 11. 

    Chronic myeloid leukemia is caused by a reciprocal translocation between band q34 on chromosome 9 and band q11 on chromosome 22. This is referred to as the

    • Chicago chromosome

    • Boston chromosome

    • St. Louis chromosome

    • Philadelphia chromosome

    • Baltimore chromosome

    Correct Answer
    A. Philadelphia chromosome
    Explanation
    The reciprocal translocation t(9;22)(q34;q11) is referred to as the Philadelphia chromosome
    and results in a fusion gene called the abl/bcr oncogene.

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  • 12. 

    Which of the following aneuploidy situations describes the Patau syndrome?

    • Trisomy 13

    • Trisomy 18

    • Trisomy 21

    • (47,XXY)

    • (45,X)

    Correct Answer
    A. Trisomy 13
    Explanation
    Patau syndrome is a trisomic condition characterized by the presence of an additional chromosome
    13.

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  • 13. 

    NUMERICAL CHROMOSOMAL ANOMALIES Triploidy is a condition in which cells contain

    • 46 chromosomes

    • 69 chromosomes

    • 23 chromosomes

    • 45 chromosomes

    • 47 chromosomes

    Correct Answer
    A. 69 chromosomes
    Explanation
    Triploidy is a condition in which cells contain 69 chromosomes.

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  • 14. 

    Which of the following is inherited entirely through maternal transmission?

    • Huntington disease

    • Cystic fibrosis

    • Duchenne muscular dystrophy

    • Leber hereditary optic neuropathy

    Correct Answer
    A. Leber hereditary optic neuropathy
    Explanation
    Leber hereditary optic neuropathy involves a mutation in the ND4 gene located on mitochondrial
    DNA. All mitochondrial DNA is inherited only from the mother because sperm (male)
    mitochondria do not pass into the ovum at fertilization.

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  • 15. 

    SINGLE-GENE INHERITED DISEASES  Leber hereditary optic neuropathy demonstrates which of the following inheritance patterns?

    • Mitochondrial inheritance

    • X-linked recessive

    • Autosomal dominant

    • Autosomal recessive

    Correct Answer
    A. Mitochondrial inheritance
    Explanation
    Leber hereditary optic neuropathy demonstrates a mitochondrial inheritance pattern.

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  • 16. 

    Prader-Willi syndrome is characterized by which of the following?

    • Catlike cry

    • Greek warrior helmet

    • Absence of the thymus gland

    • Chromosome 15q11-13 maternal imprinting

    • Chromosome 15q11-13 paternal imprinting

    Correct Answer
    A. Chromosome 15q11-13 paternal imprinting
    Explanation
    Prader-Willi syndrome involves a microdeletion in chromosome 15q11-13 derived from the
    father.

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  • 17. 

     Isochromosome Xq is sometimes found in individuals with which of the following syndromes?

    • Acute promyelocytic leukemia

    • Chronic myeloid leukemia

    • Turner syndrome

    • Klinefelter syndrome

    • Down syndrome

    Correct Answer
    A. Turner syndrome
    Explanation
    Isochromosome Xq is found in 20% of females with Turner syndrome.

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  • 18. 

    Type I diabetes is a multifactorial disease that involves which of the following?

    • HLA Class I genes

    • HLA Class 11 genes

    • HLA Class II genes

    • HLA Class IV genes

    Correct Answer
    A. HLA Class 11 genes
    Explanation
    Type I diabetes involve HLA Class II genes. The specific locus is called HLA-DR3 and HLADR4.

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  • 19. 

    Which of the following is the most common translocation found in humans?

    • T(14q21q)

    • T(13q14q)

    • T(15;17)(q21;q21)

    • T(9;22)(q34;q11)

    Correct Answer
    A. T(13q14q)
    Explanation
    This robertsonian translocation is the most common translocation in humans. Carriers of
    this translocation are clinically normal.

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  • Current Version
  • Jun 19, 2023
    Quiz Edited by
    ProProfs Editorial Team
  • Mar 26, 2012
    Quiz Created by
    Rossstudent
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