Deck 3: Clinical Genetics
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Deck 3: Clinical Genetics
1
In practical terms regarding genetic health care,nurses should be aware that:
A)Genetic disorders affect equally people of all socioeconomic backgrounds,races,and ethnic groups
B)Genetic health care is more concerned with populations than individuals
C)The most important of all nursing functions is providing emotional support to the family during counseling
D)Taking genetic histories is the province of large universities and medical centers
A)Genetic disorders affect equally people of all socioeconomic backgrounds,races,and ethnic groups
B)Genetic health care is more concerned with populations than individuals
C)The most important of all nursing functions is providing emotional support to the family during counseling
D)Taking genetic histories is the province of large universities and medical centers
The most important of all nursing functions is providing emotional support to the family during counseling
2
A new father has just been told that his child has trisomy 18.He asks the nurse what made her suspect a problem after the birth.The nurse explains that during the infant's newborn assessment,she noted:
A)Microcephaly and capillary hemangiomas
B)Epicanthal folds and a simian crease
C)Oblique palpebral fissures and Cri du chat syndrome
D)Rocker-bottom feet and clenched hands with overlapping fingers
A)Microcephaly and capillary hemangiomas
B)Epicanthal folds and a simian crease
C)Oblique palpebral fissures and Cri du chat syndrome
D)Rocker-bottom feet and clenched hands with overlapping fingers
Rocker-bottom feet and clenched hands with overlapping fingers
3
A woman is 5 months pregnant.On a routine ultrasound scan,the physician discovers that the fetus has a diaphragmatic hernia.The woman becomes distraught and asks the nurse what she should do.What action by the nurse is most appropriate?
A)Talk to the woman and refer her to a genetic counselor.
B)Suggest that the woman travel to a fetal treatment center for intrauterine surgery.
C)Tell her that everything is going to be fine.
D)Sit with her and calmly suggest that she consider terminating this pregnancy.
A)Talk to the woman and refer her to a genetic counselor.
B)Suggest that the woman travel to a fetal treatment center for intrauterine surgery.
C)Tell her that everything is going to be fine.
D)Sit with her and calmly suggest that she consider terminating this pregnancy.
Talk to the woman and refer her to a genetic counselor.
4
Which activities are included in the role of a nurse practicing in the field of genetics? Choose all that apply.
A)Assessing the responses of family members to a genetic disorder
B)Performing genetic testing,such as amniocentesis
C)Constructing a family pedigree of three or more generations
D)Advising a pregnant mother whose fetus has a genetic disorder to have an abortion
E)Offering parents information about genetics
A)Assessing the responses of family members to a genetic disorder
B)Performing genetic testing,such as amniocentesis
C)Constructing a family pedigree of three or more generations
D)Advising a pregnant mother whose fetus has a genetic disorder to have an abortion
E)Offering parents information about genetics
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5
A woman who is gravida 2 and 16 GW comes in for her prenatal appointment.Her 2-year-old daughter is with her and is wearing a sleeveless top.While interacting with her daughter,you note axillary freckling and several café-au-lait spots (>2 cm).In reviewing her chart,you would assess for documentation of which genetic disease?
A)Tay-Sachs disease
B)Galactosemia
C)Neurofibromatosis (NF)
D)Phenylketonuria
A)Tay-Sachs disease
B)Galactosemia
C)Neurofibromatosis (NF)
D)Phenylketonuria
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6
Cancer is genetic and begins with one or more genetic mutations.A cancer specifically being investigated in this regard is:
A)Lung cancer
B)Liver cancer
C)Colorectal cancer
D)Oral cancer
A)Lung cancer
B)Liver cancer
C)Colorectal cancer
D)Oral cancer
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7
The U.S.Department of Health and Human Services has designated Thanksgiving Day as National Family History Day.The Surgeon General encourages family members to discuss important family health information while sharing in holiday gatherings.This initiative is significant to nurses because:
A)There are few genetic tests available to identify this information
B)Only physicians should obtain this detailed information
C)Clients cannot accurately complete these histories on their own
D)This is the single most cost effective source of genetic information
A)There are few genetic tests available to identify this information
B)Only physicians should obtain this detailed information
C)Clients cannot accurately complete these histories on their own
D)This is the single most cost effective source of genetic information
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8
In presenting to obstetric nurses interested in genetics,the genetic nurse identifies the primary risk(s)associated with genetic testing as:
A)Anxiety and altered family relationships
B)Denial of insurance benefits
C)High false positives associated with genetic testing
D)Ethnic and socioeconomic disparity associated with genetic testing
A)Anxiety and altered family relationships
B)Denial of insurance benefits
C)High false positives associated with genetic testing
D)Ethnic and socioeconomic disparity associated with genetic testing
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9
With regard to prenatal genetic testing,nurses should be aware that:
A)Maternal serum screening can determine whether a pregnant woman is at risk of carrying a fetus with Down syndrome
B)Carrier screening tests look for gene mutations of people already showing symptoms of a disease
C)Predisposition testing predicts with near certainty that symptoms will appear
D)Presymptomatic testing is used to predict the likelihood of breast cancer
A)Maternal serum screening can determine whether a pregnant woman is at risk of carrying a fetus with Down syndrome
B)Carrier screening tests look for gene mutations of people already showing symptoms of a disease
C)Predisposition testing predicts with near certainty that symptoms will appear
D)Presymptomatic testing is used to predict the likelihood of breast cancer
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10
BRCA1 and BRCA2 mutations account for approximately 50% of hereditary breast and ovarian cancer.Is this statement true or false?
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11
The karyotype designated as female is ___________________.
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12
Which congenital malformations result from multifactorial inheritance? Choose all that apply.
A)Cleft lip
B)Congenital heart disease
C)Cri du chat syndrome
D)Anencephaly
E)Pyloric stenosis
A)Cleft lip
B)Congenital heart disease
C)Cri du chat syndrome
D)Anencephaly
E)Pyloric stenosis
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13
The Human Genome Project,which began in 1990:
A)Expected to complete a map of the entire human genome by 2010
B)Found that all human beings are 99.9% identical at the DNA level
C)Has not yet been able to translate the accumulating raw research into anything medically practical
D)Put its research relevant to nursing in a document published by the International Society of Nurses in Genetics (ISONG)
A)Expected to complete a map of the entire human genome by 2010
B)Found that all human beings are 99.9% identical at the DNA level
C)Has not yet been able to translate the accumulating raw research into anything medically practical
D)Put its research relevant to nursing in a document published by the International Society of Nurses in Genetics (ISONG)
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14
A nurse must be cognizant that an individual's genetic makeup is known as his/her:
A)Genotype
B)Phenotype
C)Karyotype
D)Chromotype
A)Genotype
B)Phenotype
C)Karyotype
D)Chromotype
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15
A nurse is assessing the knowledge of new parents with a child born with maple syrup urine disease (MSUD).This is an autosomal recessive inherited disorder,which means that:
A)Both genes of a pair must be abnormal for the disorder to be expressed
B)Only one copy of the abnormal gene is required for the disorder to be expressed
C)The disorder occurs in males and heterozygous females
D)The disorder is carried on the X chromosome
A)Both genes of a pair must be abnormal for the disorder to be expressed
B)Only one copy of the abnormal gene is required for the disorder to be expressed
C)The disorder occurs in males and heterozygous females
D)The disorder is carried on the X chromosome
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16
A man's wife is pregnant for the third time.One child was born with cystic fibrosis,and the other child is healthy.The man wonders what the chance is that this child will have cystic fibrosis.This type of testing is known as:
A)Occurrence risk
B)Recurrence risk
C)Predictive testing
D)Predisposition testing
A)Occurrence risk
B)Recurrence risk
C)Predictive testing
D)Predisposition testing
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17
A father and mother are carriers of phenylketonuria (PKU).Their 2-year-old daughter has PKU.The couple tells the nurse that they are planning to have a second baby.Because their daughter has PKU,they are sure that their next baby won't be affected.What response by the nurse is most accurate?
A)"Good planning;you need to take advantage of the odds in your favor."
B)"I think you'd better check with your doctor first."
C)"You are both carriers,so each baby has a 25% chance of being affected."
D)"The ultrasound indicates a boy,and boys are not affected by PKU."
A)"Good planning;you need to take advantage of the odds in your favor."
B)"I think you'd better check with your doctor first."
C)"You are both carriers,so each baby has a 25% chance of being affected."
D)"The ultrasound indicates a boy,and boys are not affected by PKU."
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