patho chapter 21 test review
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Questions and Answers

What is the primary function of a karyotype?

  • To determine the sex of an individual
  • To represent genetic information carried by an individual
  • To provide a visual representation of chromosomes (correct)
  • To identify the phenotype of an individual

    • Which chromosomes indicate a female individual?

  • XZ
  • YY
  • XX (correct)
  • XY

    • What type of genetic disorders can result from chromosomal anomalies?

  • Only environmental factors
  • Only multifactorial disorders
  • Only single-gene disorders
  • Disorders caused by a chromosomal defect or nondisjunction (correct)

    • Which statement about genotype and phenotype is correct?

    <p>Genotype includes all genetic information, not all of which is expressed</p> Signup and view all the answers

    What characterizes single-gene disorders?

    <p>They are transmitted to subsequent generations by one set of alleles</p> Signup and view all the answers

    What is the likely outcome of nondisjunction during meiosis?

    <p>An abnormal number of chromosomes in gametes</p> Signup and view all the answers

    Cerebral palsy can be classified as which type of disorder?

    <p>A congenital disorder resulting from environmental factors</p> Signup and view all the answers

    What defines multifactorial disorders?

    <p>They have a significant environmental component</p> Signup and view all the answers

    What aspect of genetic information remains constant across an individual's somatic cells?

    <p>The genotype</p> Signup and view all the answers

    Which of the following is a teratogenic agent?

    <p>A medication that affects fetal development</p> Signup and view all the answers

    Which of the following statements is true regarding autosomal recessive disorders?

    <p>Both parents must carry the gene for the disorder to affect the child.</p> Signup and view all the answers

    What is a characteristic feature of X-linked recessive disorders?

    <p>They usually skip generations in a pedigree.</p> Signup and view all the answers

    What is a common diagnostic tool for detecting Down syndrome during pregnancy?

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

    In which disorder is the allele carried on the X chromosome and affects males more severely?

    <p>Duchenne muscular dystrophy</p> Signup and view all the answers

    Which of the following is a phenotypic characteristic of Down syndrome?

    <p>Flat facial profile with slanted eyes</p> Signup and view all the answers

    What is a primary cause of cystic fibrosis?

    <p>Mutation in the CFTR gene</p> Signup and view all the answers

    What type of inheritance pattern does Huntington’s disease follow?

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

    Which of the following disorders is classified as a multifactorial disorder?

    <p>Type 2 diabetes mellitus</p> Signup and view all the answers

    What condition affects women with a missing X chromosome?

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

    What is the main goal of using a Punnett square in genetics?

    <p>To predict probabilities of genetic inheritance</p> Signup and view all the answers

    What is the significance of a karyotype in genetics?

    <p>It provides a visual representation of chromosomes arranged by size.</p> Signup and view all the answers

    How many pairs of chromosomes are classified as autosomes in humans?

    <p>22 pairs</p> Signup and view all the answers

    What type of genetic disorders may be caused by a chromosomal defect?

    <p>Both single-gene and multifactorial disorders</p> Signup and view all the answers

    Which statement correctly describes the phenotype?

    <p>It includes the physical expression of genes.</p> Signup and view all the answers

    What does nondisjunction during meiosis typically lead to?

    <p>Chromosomal abnormalities in the offspring.</p> Signup and view all the answers

    Which of the following is a cause of congenital disorders?

    <p>Both genetic and environmental factors</p> Signup and view all the answers

    Which pattern describes single-gene disorders?

    <p>They are controlled by one set of alleles.</p> Signup and view all the answers

    Which of the following examples represents polygenic inheritance?

    <p>Height in humans</p> Signup and view all the answers

    What type of disorder is cerebral palsy generally classified as?

    <p>A congenital disorder</p> Signup and view all the answers

    Which group of chromosomes is referred to as sex chromosomes?

    <p>Chromosome X and Y</p> Signup and view all the answers

    Which statement accurately describes autosomal dominant disorders?

    <p>Only one parent needs to carry the allele for the disorder to manifest.</p> Signup and view all the answers

    What is true about X-linked recessive disorders?

    <p>They can skip generations due to carrier females.</p> Signup and view all the answers

    Which disorder is characterized by the inability to metabolize phenylalanine?

    <p>Phenylketonuria (PKU)</p> Signup and view all the answers

    How does the inheritance pattern of Duchenne muscular dystrophy typically present?

    <p>Males are predominantly affected due to its X-linked recessive nature.</p> Signup and view all the answers

    What primary biological mechanism is responsible for the characteristics of Down syndrome?

    <p>Nondisjunction resulting in trisomy of chromosome 21.</p> Signup and view all the answers

    Which characteristic is commonly associated with patients diagnosed with Marfan syndrome?

    <p>Abnormal connective tissues</p> Signup and view all the answers

    Which of the following is a characteristic feature of Tay-sachs disease?

    <p>It leads to progressive neurological deterioration.</p> Signup and view all the answers

    In which condition do individuals typically have cognitive deficits and are at risk of learning disorders?

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

    What commonly complicates the diagnosis process of genetic disorders?

    <p>Some conditions become evident later in life.</p> Signup and view all the answers

    For which of the following disorders might maternal age be a significant risk factor?

    <p>Down syndrome</p> Signup and view all the answers

    A karyotype provides a visual representation of all genes present in an individual's genome.

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

    XX denotes a male individual in terms of sex chromosomes.

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

    Single-gene disorders result from multiple sets of alleles controlling a trait.

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

    Nondisjunction is a type of chromosomal anomaly that can occur during meiosis.

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

    Cerebral palsy can only occur due to genetic factors and is not associated with premature birth.

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

    Phenotype expresses the individual's genetic characteristics.

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

    All individuals' cells contain the same genotype, including their gametes.

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

    Down syndrome is characterized by the presence of an extra chromosome at position 21.

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

    Polygenic disorders are those caused by a single gene's action.

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

    Teratogenic agents are factors that can harm the fetus during development.

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

    Cystic fibrosis is an autosomal dominant disorder.

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

    Duchenne muscular dystrophy is a condition that primarily affects males.

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

    Phenylketonuria (PKU) results from an inability to metabolize the amino acid phenylalanine.

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

    Color blindness is considered an autosomal dominant disorder.

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

    Trisomy 21 is commonly known as Turner syndrome.

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

    Huntington’s disease symptoms usually appear later in life.

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

    Fragile X syndrome is a dominant disorder that affects cognitive function.

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

    Down syndrome can be screened through blood tests and ultrasound during pregnancy.

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

    Homozygous recessive individuals will always show the disorder in autosomal recessive conditions.

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

    Klinefelter syndrome is associated with the presence of a single X chromosome.

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

    Study Notes

    Genetic Control

    • Genetic information is stored in chromosomes, consisting of 23 pairs in humans.
    • 22 pairs are autosomes, while 1 pair comprises sex chromosomes (XX for female, XY for male).

    Karyotype

    • Represents the size and appearance of chromosomes arranged by size.
    • Provides a visual tool for diagnosing chromosomal disorders.

    Genotype and Phenotype

    • Genotype refers to the actual genetic information of an individual, consistent across all somatic cells except gametes.
    • Phenotype describes the expression of genes and the observable characteristics of an individual.

    Chromosomal and Congenital Disorders

    • Down syndrome is characterized by an extra chromosome at position 21.
    • Congenital disorders can be inherited or developmental.

    Inherited Disorders

    • Caused by single-gene expression, chromosomal defects, or polygenic expression.

    Types of Genetic Disorders

    • Single-gene disorders are controlled by one set of alleles and can be recessive, dominant, or X-linked.
    • Autosomal Recessive Disorders include:
      • Cystic fibrosis: Affects mucus production, leading to respiratory and digestive issues.
      • Phenylketonuria (PKU): Metabolic disorder affecting amino acid processing.
      • Tay-Sachs disease: Destroys nerve cells leading to progressive neurological decline.

    Autosomal Dominant Disorders

    • Only one allele is needed for expression.
    • Examples include:
      • Huntington’s disease: Neurodegenerative disorder with symptoms appearing later in life.
      • Familial hypercholesterolemia: High cholesterol conditions.

    X-linked Disorders

    • X-linked Dominant Disorders: Affects both heterozygous males and females, with fragile X syndrome being a notable example.
    • X-linked Recessive Disorders: Manifest in males and are carried in females. Examples include:
      • Duchenne muscular dystrophy and Hemophilia A.

    Chromosomal Disorders

    • Down Syndrome (Trisomy 21) may arise from nondisjunction or translocation.
    • Turner Syndrome (XO) affects females and is characterized by short stature and infertility.
    • Klinefelter Syndrome (XXY) involves an extra X chromosome causing infertility.

    Multifactorial Disorders

    • Result from the interaction of genetic influences and environmental factors.
    • Include conditions like cleft palate and type 2 diabetes mellitus.

    Diagnostic Tools

    • Testing available before conception and during pregnancy.
    • Recommended for individuals with a family history of specific diseases, older pregnant women, and certain ethnic groups.
    • Methods include:
      • Blood tests, screening tests, amniocentesis, chorionic villi sampling, and neonatal testing for disorders like PKU.

    Down Syndrome Characteristics

    • Common symptoms include a small head, flat facial profile, slanted eyes, large tongue, and short stature.
    • Cognitive impairments vary from mild to severe, with delayed sexual development and increased infertility in males.

    Genetic Control

    • Genetic information is stored in chromosomes, consisting of 23 pairs in humans.
    • 22 pairs are autosomes, while 1 pair comprises sex chromosomes (XX for female, XY for male).

    Karyotype

    • Represents the size and appearance of chromosomes arranged by size.
    • Provides a visual tool for diagnosing chromosomal disorders.

    Genotype and Phenotype

    • Genotype refers to the actual genetic information of an individual, consistent across all somatic cells except gametes.
    • Phenotype describes the expression of genes and the observable characteristics of an individual.

    Chromosomal and Congenital Disorders

    • Down syndrome is characterized by an extra chromosome at position 21.
    • Congenital disorders can be inherited or developmental.

    Inherited Disorders

    • Caused by single-gene expression, chromosomal defects, or polygenic expression.

    Types of Genetic Disorders

    • Single-gene disorders are controlled by one set of alleles and can be recessive, dominant, or X-linked.
    • Autosomal Recessive Disorders include:
      • Cystic fibrosis: Affects mucus production, leading to respiratory and digestive issues.
      • Phenylketonuria (PKU): Metabolic disorder affecting amino acid processing.
      • Tay-Sachs disease: Destroys nerve cells leading to progressive neurological decline.

    Autosomal Dominant Disorders

    • Only one allele is needed for expression.
    • Examples include:
      • Huntington’s disease: Neurodegenerative disorder with symptoms appearing later in life.
      • Familial hypercholesterolemia: High cholesterol conditions.

    X-linked Disorders

    • X-linked Dominant Disorders: Affects both heterozygous males and females, with fragile X syndrome being a notable example.
    • X-linked Recessive Disorders: Manifest in males and are carried in females. Examples include:
      • Duchenne muscular dystrophy and Hemophilia A.

    Chromosomal Disorders

    • Down Syndrome (Trisomy 21) may arise from nondisjunction or translocation.
    • Turner Syndrome (XO) affects females and is characterized by short stature and infertility.
    • Klinefelter Syndrome (XXY) involves an extra X chromosome causing infertility.

    Multifactorial Disorders

    • Result from the interaction of genetic influences and environmental factors.
    • Include conditions like cleft palate and type 2 diabetes mellitus.

    Diagnostic Tools

    • Testing available before conception and during pregnancy.
    • Recommended for individuals with a family history of specific diseases, older pregnant women, and certain ethnic groups.
    • Methods include:
      • Blood tests, screening tests, amniocentesis, chorionic villi sampling, and neonatal testing for disorders like PKU.

    Down Syndrome Characteristics

    • Common symptoms include a small head, flat facial profile, slanted eyes, large tongue, and short stature.
    • Cognitive impairments vary from mild to severe, with delayed sexual development and increased infertility in males.

    Genetic Control

    • Genetic information is stored in chromosomes, consisting of 23 pairs in humans.
    • 22 pairs are autosomes, while 1 pair comprises sex chromosomes (XX for female, XY for male).

    Karyotype

    • Represents the size and appearance of chromosomes arranged by size.
    • Provides a visual tool for diagnosing chromosomal disorders.

    Genotype and Phenotype

    • Genotype refers to the actual genetic information of an individual, consistent across all somatic cells except gametes.
    • Phenotype describes the expression of genes and the observable characteristics of an individual.

    Chromosomal and Congenital Disorders

    • Down syndrome is characterized by an extra chromosome at position 21.
    • Congenital disorders can be inherited or developmental.

    Inherited Disorders

    • Caused by single-gene expression, chromosomal defects, or polygenic expression.

    Types of Genetic Disorders

    • Single-gene disorders are controlled by one set of alleles and can be recessive, dominant, or X-linked.
    • Autosomal Recessive Disorders include:
      • Cystic fibrosis: Affects mucus production, leading to respiratory and digestive issues.
      • Phenylketonuria (PKU): Metabolic disorder affecting amino acid processing.
      • Tay-Sachs disease: Destroys nerve cells leading to progressive neurological decline.

    Autosomal Dominant Disorders

    • Only one allele is needed for expression.
    • Examples include:
      • Huntington’s disease: Neurodegenerative disorder with symptoms appearing later in life.
      • Familial hypercholesterolemia: High cholesterol conditions.

    X-linked Disorders

    • X-linked Dominant Disorders: Affects both heterozygous males and females, with fragile X syndrome being a notable example.
    • X-linked Recessive Disorders: Manifest in males and are carried in females. Examples include:
      • Duchenne muscular dystrophy and Hemophilia A.

    Chromosomal Disorders

    • Down Syndrome (Trisomy 21) may arise from nondisjunction or translocation.
    • Turner Syndrome (XO) affects females and is characterized by short stature and infertility.
    • Klinefelter Syndrome (XXY) involves an extra X chromosome causing infertility.

    Multifactorial Disorders

    • Result from the interaction of genetic influences and environmental factors.
    • Include conditions like cleft palate and type 2 diabetes mellitus.

    Diagnostic Tools

    • Testing available before conception and during pregnancy.
    • Recommended for individuals with a family history of specific diseases, older pregnant women, and certain ethnic groups.
    • Methods include:
      • Blood tests, screening tests, amniocentesis, chorionic villi sampling, and neonatal testing for disorders like PKU.

    Down Syndrome Characteristics

    • Common symptoms include a small head, flat facial profile, slanted eyes, large tongue, and short stature.
    • Cognitive impairments vary from mild to severe, with delayed sexual development and increased infertility in males.

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    Description

    Explore the intricate details of genetic control through Chapter 21. This quiz covers the structure of chromosomes, the composition of karyotypes, and the significance of genotypes in human genetics. Understand the difference between autosomes and sex chromosomes as well as their implications in chromosomal disorders.

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