Chapter 3 - Developmental and Genetic Influences on Child Health Promotion Flashcards

1
Q

Which genetic term refers to a person who possesses one copy of an affected gene and one copy of an unaffected gene and is clinically unaffected?

a. Allele
b. Carrier
c. Pedigree
d. Multifactorial

A

b. Carrier

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2
Q

Which genetic term refers to the transfer of all or part of a chromosome to a different chromosome after chromosome breakage?

a. Trisomy
b. Monosomy
c. Translocation
d. Nondisjunction

A

c. Translocation

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3
Q

Which is a birth defect or disorder that occurs as a new case in a family and is not inherited?

a. Sporadic
b. Polygenic
c. Monosomy
d. Association

A

a. Sporadic

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4
Q

The nurse is assessing a neonate who was born 1 hour ago to healthy white parents in their early forties. Which finding should be most suggestive of Down syndrome?

a. Hypertonia
b. Low-set ears
c. Micrognathia
d. Long, thin fingers and toes

A

b. Low-set ears

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5
Q

Which abnormality is a common sex chromosome defect?

a. Down syndrome
b. Turner syndrome
c. Marfan syndrome
d. Hemophilia

A

b. Turner syndrome

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6
Q

Turner syndrome is suspected in an adolescent girl with short stature. What causes this?

a. Absence of one of the X chromosomes
b. Presence of an incomplete Y chromosome
c. Precocious puberty in an otherwise healthy child
d. Excess production of both androgens and estrogens

A

a. Absence of one of the X chromosomes

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7
Q

Which is a sex chromosome abnormality that is caused by the presence of one or more additional X chromosomes in a male?

a. Turner
b. Triple X
c. Klinefelter
d. Trisomy 13

A

c. Klinefelter

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8
Q

Parents ask the nurse about the characteristics of autosomal dominant inheritance. Which statement is characteristic of autosomal dominant inheritance?

a. Females are affected with greater frequency than males.
b. Unaffected children of affected individuals will have affected children.
c. Each child of a heterozygous affected parent has a 50% chance of being affected.
d. Any child of two unaffected heterozygous parents has a 25% chance of being affected

A

c. Each child of a heterozygous affected parent has a 50% chance of being affected.

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9
Q

Parents ask the nurse about the characteristics of autosomal recessive inheritance. Which is characteristic of autosomal recessive inheritance?

a. Affected individuals have unaffected parents.
b. Affected individuals have one affected parent.
c. Affected parents have a 50% chance of having an affected child.
d. Affected parents will have unaffected children.

A

a. Affected individuals have unaffected parents.

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10
Q

Which is characteristic of X-linked recessive inheritance?

a. There are no carriers.
b. Affected individuals are principally males.
c. Affected individuals are principally females.
d. Affected individuals will always have affected parents

A

b. Affected individuals are principally males.

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11
Q

A father with an X-linked recessive disorder asks the nurse what the probability is that his sons will have the disorder. Which response should the nurse make?

a. Male children will be carriers.
b. All male children will be affected.
c. None of the sons will have the disorder.
d. It cannot be determined without more data

A

c. None of the sons will have the disorder.

When a male has an X-linked recessive disorder, he has one copy of the allele on his X chromosome. The father passes only his Y chromosome (not the X chromosome) to his sons.
Therefore, none of his sons will have the X-linked recessive gene. They will not be carriers or be affected by the disorder.

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12
Q

The inheritance of which is X-linked recessive?

a. Hemophilia A
b. Marfan syndrome
c. Neurofibromatosis
d. Fragile X syndrome

A

a. Hemophilia A

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13
Q

Chromosome analysis of the fetus is usually accomplished through the testing of which?

a. Fetal serum
b. Maternal urine
c. Amniotic fluid
d. Maternal serum

A

c. Amniotic fluid

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14
Q

A couple asks the nurse about the optimal time for genetic counseling. They do not plan to have children for several years. When should the nurse recommend they begin genetic counseling?

a. As soon as the woman suspects that she may be pregnant
b. Whenever they are ready to start their family
c. Now, if one of them has a family history of congenital heart disease
d. Now, if they are members of a population at risk for certain diseases

A

d. Now, if they are members of a population at risk for certain diseases

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15
Q

A woman, age 43 years, is 6 weeks pregnant. It is important that she be informed of which?

a. The need for a therapeutic abortion
b. Increased risk for Down syndrome
c. Increased risk for Turner syndrome
d. The need for an immediate amniocentesis

A

b. Increased risk for Down syndrome

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16
Q

A couple has given birth to their first child, a boy with a recessive disorder. The genetic counselor tells them that the risk of recurrence is one in four. Which statement is a correct interpretation of this information?

a. The risk factor remains the same for each pregnancy.
b. The risk factor will change when they have a second child.
c. Because the parents have one affected child, the next three children should be unaffected.
d. Because the parents have one affected child, the next child is four times more likely to be affected.

A

a. The risk factor remains the same for each pregnancy.

17
Q

A couple expecting their first child has a positive family history for several congenital defects and disorders. The couple tells the nurse that they are opposed to abortion for religious reasons. Which should the nurse consider when counseling the couple?

a. The couple should be encouraged to have recommended diagnostic testing.
b. The couple needs counseling regarding advantages and disadvantages of pregnancy termination.
c. Diagnostic testing is required by law in this situation.
d. Diagnostic testing is of limited value if termination of pregnancy is not an option

A

a. The couple should be encouraged to have recommended diagnostic testing.

18
Q

Parents ask the nurse if there was something that should have been done during the pregnancy to prevent their childs cleft lip. Which statement should the nurse give as a response?

a. This is a type of deformation and can sometimes be prevented.
b. Studies show that taking folic acid during pregnancy can prevent this defect.
c. This is a genetic disorder and has a 25% chance of happening with each pregnancy.
d. The malformation occurs at approximately 5 weeks of gestation; there is no known way to prevent this.

A

d. The malformation occurs at approximately 5 weeks of gestation; there is no known way to prevent this.

19
Q

The nurse is teaching parents of a child with cri du chat syndrome about this disorder. The nurse understands parents understand the teaching if they make which statement?

a. This disorder is very common.
b. This is an autosomal recessive disorder.
c. The crying pattern is abnormal and catlike.
d. The child will always have a moon-shaped face

A

c. The crying pattern is abnormal and catlike.

20
Q

The nurse is reviewing a clients prenatal history. Which prescribed medication does the nurse understand is not considered a teratogen and prescribed during pregnancy?

a. Phenytoin (Dilantin)
b. Warfarin (Coumadin)
c. Isotretinoin (Accutane)
d. Heparin sodium (Heparin)

A

d. Heparin sodium (Heparin)