chapter 6 patho
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Questions and Answers

What type of genetic disorders require homozygous alleles to be expressed?

  • Epigenetic disorders
  • Mitochondrial disorders
  • Recessive disorders (correct)
  • Autosomal dominant disorders
  • Which type of birth defects involve the tissues of the nervous system?

  • Huntington's disease
  • Neural tube defects (correct)
  • Fetal Alcohol Syndrome
  • MELAS
  • In which disorder inheritance pattern, the offspring are carriers if one parent is heterozygous?

  • Autosomal dominant disorders (correct)
  • Recessive disorders
  • Epigenetic disorders
  • Mitochondrial disorders
  • What condition is linked to alcohol exposure during fetal development and results in cognitive impairment and physical disability?

    <p>Fetal Alcohol Syndrome</p> Signup and view all the answers

    Which disease is characterized by impaired movements, emotions, and cognition and typically appears by mid-40s?

    <p>Huntington's disease</p> Signup and view all the answers

    What is the term for heritable alterations where the DNA remains unchanged?

    <p>Epigenetic inheritance</p> Signup and view all the answers

    Which condition in females is characterized by the alteration in chromosome number where one of the X chromosomes is missing or partially missing?

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

    People with identical alleles on each chromosome are known to be:

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

    What might be recommended for pregnant women to help prevent neural tube defects?

    <p>Taking Folic Acid Supplements</p> Signup and view all the answers

    A sex-linked genetic disorder that follows Mendelian inheritance patterns and causes defects on the X chromosomes is:

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

    Double-stranded DNA containing threadlike sections of genes found in the cell nucleus is known as:

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

    In autosomal recessive inheritance patterns, if one parent is a carrier, the children will have a _______% chance of being carriers.

    <p>~50%</p> Signup and view all the answers

    What is the term for a condition characterized by alteration in chromosome number with three copies of chromosome 21?

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

    Which condition involves the presence of two different alleles on each chromosome?

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

    When the father is the carrier in sex-linked disorders, which group will have a 50% chance of being carriers?

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

    What type of disorder inheritance pattern is transmitted only to daughters?

    <p>Maternal linked</p> Signup and view all the answers

    What might be recommended for pregnant women to help prevent neural tube defects?

    <p>$44$mcg of Folic Acid</p> Signup and view all the answers

    Which disorder involves a form of gene where one allele is more likely to be expressed in a person?

    <p>Dominant disorder</p> Signup and view all the answers

    What is the term for a sex-linked genetic disorder that causes defects on X chromosomes?

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

    In autosomal recessive inheritance patterns, what is the likelihood that children of one carrier parent will also be carriers?

    <p>$50$%</p> Signup and view all the answers

    $TORCH$ diseases can cause damage to the fetus if exposed. What does $TORCH$ stand for?

    <p>$Tetanus/Other (hepatitis)/Rubella/Cytomegalovirus/Herpes$</p> Signup and view all the answers

    $Prader-Willi$ and $Angelman$ syndromes illustrate the influence of an imprinting defect on which chromosome?

    <p>$Chromosome 15$</p> Signup and view all the answers

    What is the chance of a child being affected by a neurologic disorder caused by degeneration of the basal ganglia and cortical regions of the brain when both parents are heterozygous for the autosomal dominant gene?

    <p>50%</p> Signup and view all the answers

    What type of inheritance results in the presence of a trait when both parents are carriers of a mutation involving two recessive alleles?

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

    Which type of spinal bifida involves incomplete closure with protrusion of meninges and cerebrospinal fluid?

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

    What term is used for diseases that are present at birth and are due to gene-environment interactions from fertilization until birth?

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

    What do oocytes and sperm collectively represent?

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

    What type of genetic disorders require homozygous alleles to be expressed?

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

    In an autosomal recessive inheritance pattern, if both parents are carriers, what percentage of children will be unaffected?

    <p>25%</p> Signup and view all the answers

    What is the term for the combination of cells with the regular chromosome number and those with an altered chromosome number?

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

    Which word best describes the involvement of multiple alleles at different locations affecting phenotype?

    <p>Polygenic inheritance</p> Signup and view all the answers

    What is the term for rapid, involuntary, repetitive movements of face, trunk, and limbs often seen in Huntington's disease?

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

    In autosomal recessive inheritance patterns, when one parent is heterozygous, what is the allele configuration for the disorder?

    <p><strong>Homozygous</strong></p> Signup and view all the answers

    What is the term for a genetic disorder that results from the involvement of multiple alleles at different locations, affecting the phenotype?

    <p>Polygenic inheritance</p> Signup and view all the answers

    In autosomal recessive inheritance patterns, if both parents are carriers, what percentage of children will be unaffected?

    <p>25%</p> Signup and view all the answers

    In genetic disorders with autosomal dominant inheritance, what is the chance that a child of a heterozygous parent will have the disorder?

    <p>50%</p> Signup and view all the answers

    Which type of genetic defect results from nondisjunction causing cells with a single copy of a chromosome instead of two?

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

    When one parent has two different alleles for an autosomal recessive disorder, what is the likelihood their child will be a carrier?

    <p>50%</p> Signup and view all the answers

    What type of spinal bifida involves the incomplete closure of vertebrae without protrusion of the spinal cord or meninges?

    <p>Spina bifida occulta</p> Signup and view all the answers

    What type of spinal bifida involves incomplete closure with protrusion of meninges, cerebrospinal fluid, and spinal cord/nerve roots?

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

    Which condition is a result of disordered epigenetic regulation of imprinted genes that are clustered together?

    <p>Prader-Willi syndrome</p> Signup and view all the answers

    During which period of gestation is the risk of damage from the environment the greatest?

    <p>Embryonic; organogenesis</p> Signup and view all the answers

    What type of disorder inheritance pattern is characterized by one heterozygous parent transmitting the disorder?

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

    A group of serious birth defects that involve the tissues of the nervous system (brain and spinal cord) are known as:

    <p>Neural tube defects</p> Signup and view all the answers

    In sex-linked genetic disorders, when the father carries the gene, all ____________ will be carriers, and all ____________ will be unaffected.

    <p>Daughters; sons</p> Signup and view all the answers

    What is the term for the pattern of inheritance where one homozygous and one non-carrier parent or two heterozygous parents transmit the disorder?

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

    Having two different alleles on each chromosome is known as:

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

    What is the term for the condition characterized by having three copies of chromosome 21?

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

    Which of the following illustrates the influence of an imprinting defect on chromosome 15?

    <p>Prader-Willi syndrome</p> Signup and view all the answers

    In sex-linked disorders, what is the outcome when the mother is a carrier?

    <p>Daughters have a 50% chance of being carriers, sons have a 50% chance of being affected</p> Signup and view all the answers

    Mitochondrial diseases are related to which of the following?

    <p>Energy production</p> Signup and view all the answers

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