Ch. 6 Flashcards
Genetic and Congenital Disorders
Priority of care for infant with cleft lip and palate would be?
Malnutrition p. 120
FAS is unlike other teratogens in that the harmful effects on the fetus:
extend throughout the pregnancy p.122
Ultra sound is likely to detect which fetal abnormalities?
skeletal abnormalities p.118
Mitochondrial DNA mutations generally affect which tissues and organs?
Neuromuscular p. 113
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?
Translocation p. 115
Maternal serum apha-fetoprotein (AFP) is a test for?
Down syndrom p.124-125
A male with the gene for fragile X syndrome includes which?
The gene will be passed on to all female children p. 112
Three classes of teratogenic substances that cause abnormalities during embryonic and fetal development are:
Radiation, drugs and chemical substances, and infectious agents p. 120
the most important teratogenic drug category to avoid someone wishing to become pregnant is?
X p. 121-122
Cytogenetic studies to determine fetal karyotyping…Which manifestation would show that the fetus has trisomy 21
Epicanthal eye folds p.117
A congenital defect that arises through multifactorial inheritance
Care au lait spots p. 109
hearing impairment, blindness, and adverse neurodevelopment in newborns can be prevented by which vaccine?
Rubella p. 114
Fetal karotype describes absence of all or part of the X chromosome. What condition does the fetus exhibit?
Turner syndrome p.118
What is caused by a genetic defect of chloride transport?
Cystic fibrosis p.110
An abnormal number of chromosomes refers to?
Aneuploidy p. 116
Why do mitochondrial mutations affect the brain?
They affect the ability of tissues to synthesize ATP, and tissues with high demands malfunction without enough ATP p. 113
The most critical time for teratogenic influence in embryonic development is which one of the following?
From day 15 to day 60 after conception p. 120
Examples of Neural tube defects (NTD) are:
Spina bifida
Anencephaly
Encephalocele
p.123
A patient with Klinefelter syndrome might be expected to find:
Testicular atrophy
Gynecomastia
p. 119
An adolescent report of pedunculated lesions projecting from skin on the truck area. this may be a sign of?
Neurofibromatosis-1 p.109
Which health problems may be identified by a TORCH screening test?
Rubella and Herpes p. 123
A patient with neurofibromatosis has eight 2cm dimeter, flat, cutaneous light brown posts over the trunk area. This may be?
Cafe au lait spots p. 109
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?
There is 25% chance the child will be affected p.110
A preubertalmale with fragile X syndrome may include:
large testes p.112
large, flat cutaneous pigments that are a uniform light brown with sharply demarcated edges. This may be a component of which disorder?
Von Recklinghausen disease p.109
Disorder that is a single-gene mutation
Marfan syndrom p.107
