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
Cri du chat syndrome
Turner syndrome - CORRECT ANS - 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.
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. - CORRECT ANS - 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.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 - CORRECT ANS - Relative risk is a ratio of probability, not an actual occurrence of disease.
What are the empirical risks for most multifactorial diseases based on?
, Direct observation
Chromosomal testing
Relative risks
Liability thresholds - CORRECT ANS - Many factors from lifestyle to genetics affect multifactorial
diseases. Observation and evaluation of each case individually provides the most thorough and
accurate assessment.
Which type of genetic disease affects males more frequently than females?
Sex-linked recessive
Autosomal recessive
Autosomal dominant
Sex-linked dominant - CORRECT ANS - Sex-Linked recessive. Since males only have one X and one
Y, if the affected chromosome has the illness, it will be expressed.
In which two conditions are chromosomal abnormalities the leading known cause?
Intellectual disability
Respiratory disorders
Fetal miscarriage
Cardiovascular disease
Mental illness
Check My Answer - CORRECT ANS - Intellectual disability and fetal miscarriage. Chromosome
abnormalities are the leading known cause of intellectual disability and fetal miscarriage.
What are three examples of prenatal diagnostic studies?
Drug-sensitivity testing
Chorionic villus sampling (CVS)
Microscopy of cervical mucosa
Preimplantation genetic testing (PGT)
Amniocentesis - CORRECT ANS - 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
normal complement of genes and one chromosome with a missing gene?
Klinefelter syndrome
Down syndrome
Cri du chat syndrome
Turner syndrome - CORRECT ANS - 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.
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. - CORRECT ANS - 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.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 - CORRECT ANS - Relative risk is a ratio of probability, not an actual occurrence of disease.
What are the empirical risks for most multifactorial diseases based on?
, Direct observation
Chromosomal testing
Relative risks
Liability thresholds - CORRECT ANS - Many factors from lifestyle to genetics affect multifactorial
diseases. Observation and evaluation of each case individually provides the most thorough and
accurate assessment.
Which type of genetic disease affects males more frequently than females?
Sex-linked recessive
Autosomal recessive
Autosomal dominant
Sex-linked dominant - CORRECT ANS - Sex-Linked recessive. Since males only have one X and one
Y, if the affected chromosome has the illness, it will be expressed.
In which two conditions are chromosomal abnormalities the leading known cause?
Intellectual disability
Respiratory disorders
Fetal miscarriage
Cardiovascular disease
Mental illness
Check My Answer - CORRECT ANS - Intellectual disability and fetal miscarriage. Chromosome
abnormalities are the leading known cause of intellectual disability and fetal miscarriage.
What are three examples of prenatal diagnostic studies?
Drug-sensitivity testing
Chorionic villus sampling (CVS)
Microscopy of cervical mucosa
Preimplantation genetic testing (PGT)
Amniocentesis - CORRECT ANS - 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
