WGU D115 UNIT 2
Study online at https://quizlet.com/_gjyie1
1. Which type of genetic disease affects males more frequently than females?
Sex-linked recessive
Autosomal recessive
Autosomal dominant
Sex-linked dominant: Sex-Linked recessive. Since males only have one X and one Y, if the affected
chromosome has the illness, it will be expressed.
2. In which two conditions are chromosomal abnormalities the leading known
cause?
Intellectual disability
Respiratory disorders
Fetal miscarriage
Cardiovascular disease
Mental illness
Check My Answer: Intellectual disability and fetal miscarriage. Chromosome abnormalities are the leading
known cause of intellectual disability and fetal miscarriage.
3. What are three examples of prenatal diagnostic studies?
Drug-sensitivity testing
Chorionic villus sampling (CVS)
Microscopy of cervical mucosa
Preimplantation genetic testing (PGT)
Amniocentesis: Chorionic villus sampling (CVS), amniocentesis, and preimplantation genetic testing (PGT)
are examples of prenatal diagnostic studies and are performed in vitro. CVS is a form of genetic testing that
provides genetic information found in utero and is usually performed between weeks 11 and 14 of pregnancy. An
amniocentesis is a form of genetic testing that evaluates amniotic fluid and is usually performed during the second
trimester, between weeks 15 and 20 of pregnancy. PGT is performed on the embryo prior to implantation.
4. Which genetic disorder is characterized by the presence of a zygote having
one chromosome with a normal complement of genes and one chromosome
with a missing gene?
Klinefelter syndrome
Down syndrome
1/9
, WGU D115 UNIT 2
Study online at https://quizlet.com/_gjyie1
Cri du chat syndrome
Turner syndrome: Cri du chat syndrome (translated as "cry of the cat") is caused by a DNA deletion. This
term describes the cry often heard from a baby affected by the syndrome. Cri du chat syndrome can present as a
microcephalic, low birth-weight baby with a piercing cry.
5. How can an X-linked recessive disease skip generations?
Mothers cannot pass X-linked genes to their sons.
Females are hemizygous for the X chromosome.
The disease can be transmitted through female carriers.
These diseases need only one copy of the gene in females.: The disease can be
transmitted through female carriers.
Since females have two copies of the X chromosome, the mother may provide an unaffected X to a daughter or son.
Furthermore, a daughter may not show signs of the disease because she has the other X (the only X the father can
give to a female) to cancel it out.
6. Which type of risk is referred to as the ratio of the disease rate among the
entire population to the disease rate in an unexposed population?
Relative
Attributable
Contingency
Causal: Relative risk is a ratio of probability, not an actual occurrence of disease.
7. What are the empirical risks for most multifactorial diseases based on?
Direct observation
Chromosomal testing
Relative risks
Liability thresholds: Many factors from lifestyle to genetics affect multifactorial diseases. Observation and
evaluation of each case individually provides the most thorough and accurate assessment.
8. What refers to the silenced gene of a gene pair.
Imprinted, activated, mutated, altered: The imprinted gene is the silent gene of a gene pair.
2/9
Study online at https://quizlet.com/_gjyie1
1. Which type of genetic disease affects males more frequently than females?
Sex-linked recessive
Autosomal recessive
Autosomal dominant
Sex-linked dominant: Sex-Linked recessive. Since males only have one X and one Y, if the affected
chromosome has the illness, it will be expressed.
2. In which two conditions are chromosomal abnormalities the leading known
cause?
Intellectual disability
Respiratory disorders
Fetal miscarriage
Cardiovascular disease
Mental illness
Check My Answer: Intellectual disability and fetal miscarriage. Chromosome abnormalities are the leading
known cause of intellectual disability and fetal miscarriage.
3. What are three examples of prenatal diagnostic studies?
Drug-sensitivity testing
Chorionic villus sampling (CVS)
Microscopy of cervical mucosa
Preimplantation genetic testing (PGT)
Amniocentesis: Chorionic villus sampling (CVS), amniocentesis, and preimplantation genetic testing (PGT)
are examples of prenatal diagnostic studies and are performed in vitro. CVS is a form of genetic testing that
provides genetic information found in utero and is usually performed between weeks 11 and 14 of pregnancy. An
amniocentesis is a form of genetic testing that evaluates amniotic fluid and is usually performed during the second
trimester, between weeks 15 and 20 of pregnancy. PGT is performed on the embryo prior to implantation.
4. Which genetic disorder is characterized by the presence of a zygote having
one chromosome with a normal complement of genes and one chromosome
with a missing gene?
Klinefelter syndrome
Down syndrome
1/9
, WGU D115 UNIT 2
Study online at https://quizlet.com/_gjyie1
Cri du chat syndrome
Turner syndrome: Cri du chat syndrome (translated as "cry of the cat") is caused by a DNA deletion. This
term describes the cry often heard from a baby affected by the syndrome. Cri du chat syndrome can present as a
microcephalic, low birth-weight baby with a piercing cry.
5. How can an X-linked recessive disease skip generations?
Mothers cannot pass X-linked genes to their sons.
Females are hemizygous for the X chromosome.
The disease can be transmitted through female carriers.
These diseases need only one copy of the gene in females.: The disease can be
transmitted through female carriers.
Since females have two copies of the X chromosome, the mother may provide an unaffected X to a daughter or son.
Furthermore, a daughter may not show signs of the disease because she has the other X (the only X the father can
give to a female) to cancel it out.
6. Which type of risk is referred to as the ratio of the disease rate among the
entire population to the disease rate in an unexposed population?
Relative
Attributable
Contingency
Causal: Relative risk is a ratio of probability, not an actual occurrence of disease.
7. What are the empirical risks for most multifactorial diseases based on?
Direct observation
Chromosomal testing
Relative risks
Liability thresholds: Many factors from lifestyle to genetics affect multifactorial diseases. Observation and
evaluation of each case individually provides the most thorough and accurate assessment.
8. What refers to the silenced gene of a gene pair.
Imprinted, activated, mutated, altered: The imprinted gene is the silent gene of a gene pair.
2/9
