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A 20-year-old pregnant female gives birth to a stillborn child. Autopsy reveals that
the fetus has 92 chromosomes. What term may be on the autopsy report to
describe this condition?
Tetraploidy
The condition in which an extra portion of a chromosome is present in each cell is
called?
partial trisomy
After a geneticist talks to a patient about being a chromosomal mosaic, the
patient asks the nurse what that means. How should the nurse respond? You may
_____ genetic disease(s).
have a mild form of the
What is the most common cause of Down syndrome?
Maternal nondisjunction
pg. 1
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A patient wants to know the risk factors for Down syndrome. What is the nurse's
best response?
Pregnancy in women over age 35
What genetic disorder is the result if an individual possesses an XXY chromosome
configuration?
Klinefelter
A 13-year-old girl has a karyotype that reveals an absent homologous X
chromosome with only a single X chromosome present. What medical diagnosis
will the nurse observe on the chart?
Turner syndrome
A patient demonstrates severe mental retardation caused by a deletion of part of
chromosome 5. What genetic disorder will the nurse see documented in the
chart?
Cri du chat syndrome
pg. 2
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When considering abnormal epigenetic modifications, what factor is currently
being viewed as strongly associated with the development of some cancers?
Environmental stressors
What is the role of inactive MLH1 in the development of some forms of inherited
colon cancer?
DNA damage is left unrepaired.
Mutations in the encoding of histone-modifying proteins have been shown to
influence the development of what congenial condition?
Heart disease
5-Azacytidine has demonstrated promise in the treatment of which form of
cancer?
Pancreatic
pg. 3
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A 20-year-old pregnant female gives birth to a stillborn child. Autopsy reveals that
the fetus has 92 chromosomes. What term may be on the autopsy report to
describe this condition?
Tetraploidy
The condition in which an extra portion of a chromosome is present in each cell is
called?
partial trisomy
After a geneticist talks to a patient about being a chromosomal mosaic, the
patient asks the nurse what that means. How should the nurse respond? You may
_____ genetic disease(s).
have a mild form of the
What is the most common cause of Down syndrome?
Maternal nondisjunction
pg. 1
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A patient wants to know the risk factors for Down syndrome. What is the nurse's
best response?
Pregnancy in women over age 35
What genetic disorder is the result if an individual possesses an XXY chromosome
configuration?
Klinefelter
A 13-year-old girl has a karyotype that reveals an absent homologous X
chromosome with only a single X chromosome present. What medical diagnosis
will the nurse observe on the chart?
Turner syndrome
A patient demonstrates severe mental retardation caused by a deletion of part of
chromosome 5. What genetic disorder will the nurse see documented in the
chart?
Cri du chat syndrome
pg. 2
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When considering abnormal epigenetic modifications, what factor is currently
being viewed as strongly associated with the development of some cancers?
Environmental stressors
What is the role of inactive MLH1 in the development of some forms of inherited
colon cancer?
DNA damage is left unrepaired.
Mutations in the encoding of histone-modifying proteins have been shown to
influence the development of what congenial condition?
Heart disease
5-Azacytidine has demonstrated promise in the treatment of which form of
cancer?
Pancreatic
pg. 3
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