Ch. 6 Flashcards

Genetic and Congenital Disorders

1
Q

Priority of care for infant with cleft lip and palate would be?

A

Malnutrition p. 120

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2
Q

FAS is unlike other teratogens in that the harmful effects on the fetus:

A

extend throughout the pregnancy p.122

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3
Q

Ultra sound is likely to detect which fetal abnormalities?

A

skeletal abnormalities p.118

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4
Q

Mitochondrial DNA mutations generally affect which tissues and organs?

A

Neuromuscular p. 113

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5
Q

Structural changes in chromosomes due to breakage and rearrangement of chromosome parts…the pattern that occurs when there are simultaneous breaks in 2 chromosomes, from different pairs, with exchange of chromosome parts is?

A

Translocation p. 115

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6
Q

Maternal serum apha-fetoprotein (AFP) is a test for?

A

Down syndrom p.124-125

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7
Q

A male with the gene for fragile X syndrome includes which?

A

The gene will be passed on to all female children p. 112

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8
Q

Three classes of teratogenic substances that cause abnormalities during embryonic and fetal development are:

A

Radiation, drugs and chemical substances, and infectious agents p. 120

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9
Q

the most important teratogenic drug category to avoid someone wishing to become pregnant is?

A

X p. 121-122

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10
Q

Cytogenetic studies to determine fetal karyotyping…Which manifestation would show that the fetus has trisomy 21

A

Epicanthal eye folds p.117

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11
Q

A congenital defect that arises through multifactorial inheritance

A

Care au lait spots p. 109

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12
Q

hearing impairment, blindness, and adverse neurodevelopment in newborns can be prevented by which vaccine?

A

Rubella p. 114

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13
Q

Fetal karotype describes absence of all or part of the X chromosome. What condition does the fetus exhibit?

A

Turner syndrome p.118

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14
Q

What is caused by a genetic defect of chloride transport?

A

Cystic fibrosis p.110

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15
Q

An abnormal number of chromosomes refers to?

A

Aneuploidy p. 116

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16
Q

Why do mitochondrial mutations affect the brain?

A

They affect the ability of tissues to synthesize ATP, and tissues with high demands malfunction without enough ATP p. 113

17
Q

The most critical time for teratogenic influence in embryonic development is which one of the following?

A

From day 15 to day 60 after conception p. 120

18
Q

Examples of Neural tube defects (NTD) are:

A

Spina bifida
Anencephaly
Encephalocele
p.123

19
Q

A patient with Klinefelter syndrome might be expected to find:

A

Testicular atrophy
Gynecomastia
p. 119

20
Q

An adolescent report of pedunculated lesions projecting from skin on the truck area. this may be a sign of?

A

Neurofibromatosis-1 p.109

21
Q

Which health problems may be identified by a TORCH screening test?

A

Rubella and Herpes p. 123

22
Q

A patient with neurofibromatosis has eight 2cm dimeter, flat, cutaneous light brown posts over the trunk area. This may be?

A

Cafe au lait spots p. 109

23
Q

Both members of a couple are carriers of an autosomal recessive trait. What will the nurse teach the couple about the risks of the child being affected?

A

There is 25% chance the child will be affected p.110

24
Q

A preubertalmale with fragile X syndrome may include:

A

large testes p.112

25
Q

large, flat cutaneous pigments that are a uniform light brown with sharply demarcated edges. This may be a component of which disorder?

A

Von Recklinghausen disease p.109

26
Q

Disorder that is a single-gene mutation

A

Marfan syndrom p.107