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 (B)</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 (D)</p> Signup and view all the answers

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

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

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

<p>Homozygous (D)</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 (C)</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 (B)</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 (A)</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% (B)</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 (D)</p> Signup and view all the answers

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

<p>Heterozygous (B)</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 (D)</p> Signup and view all the answers

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

<p>Maternal linked (D)</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 (B)</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 (C)</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 (C)</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>$50$% (D)</p> Signup and view all the answers

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

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

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

<p>$Chromosome 15$ (A)</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% (D)</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 (A)</p> Signup and view all the answers

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

<p>Myelomeningocele (C)</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 (A)</p> Signup and view all the answers

What do oocytes and sperm collectively represent?

<p>Gametes (A)</p> Signup and view all the answers

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

<p>Autosomal recessive disorders (D)</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% (A)</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 (C)</p> Signup and view all the answers

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

<p>Polygenic inheritance (A)</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 (D)</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> (D)</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 (B)</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% (A)</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% (D)</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 (A)</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% (C)</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 (A)</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 (B)</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 (A)</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 (D)</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 (A)</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 (B)</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 (B)</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 (C)</p> Signup and view all the answers

Having two different alleles on each chromosome is known as:

<p>Heterozygosity (B)</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 (A)</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 (B)</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 (A)</p> Signup and view all the answers

Mitochondrial diseases are related to which of the following?

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

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