Nokea
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
Correct Answer: B
Rationale: Children with Down syndrome have low-set ears. Infants with Down syndrome have hypotonia, not hypertonia. Micrognathia is common in trisomy 16, not Down syndrome. Children with Down syndrome have short hands with broad fingers.
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The inheritance of which is X-linked recessive?
- A. Hemophilia A
- B. Marfan syndrome
- C. Neurofibromatosis
- D. Fragile X syndrome
Correct Answer: A
Rationale: Hemophilia A is inherited as an X-linked recessive trait. Marfan syndrome and neurofibromatosis are inherited as autosomal dominant disorders. Fragile X is inherited as an X-linked trait.
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
Correct Answer: B
Rationale: An individual who is a carrier is asymptomatic but possesses a genetic alteration, either in the form of a gene or chromosome change. Alleles are alternative expressions of genes at a different locus. A pedigree is a diagram that describes family relationships, gender, disease, status, or other relevant information about a family. Multifactorial describes a complex interaction of both genetic and environmental factors that produce an effect on the individual.
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.
Correct Answer: A
Rationale: The benefits of prenatal diagnostic testing extend beyond decisions concerning abortion. If the child has congenital disorders, decisions can be made about fetal surgery if indicated. In addition, if the child is expected to require neonatal intensive care at birth, the mother is encouraged to deliver at a level III neonatal center. The couple is counseled about the advantages and disadvantages of prenatal diagnosis, not pregnancy termination, although the family cannot be forced to have prenatal testing. The information gives the parents time to grieve and plan for their child if congenital disorders are present. If the child is free of defects, then the parents are relieved of a major worry.
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
Correct Answer: A
Rationale: Turner syndrome is caused by an absence of one of the X chromosomes. Most girls who have this disorder have one X chromosome missing from all cells. No Y chromosome is present in individuals with Turner syndrome. These young women have 45 rather than 46 chromosomes.
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
Correct Answer: C
Rationale: Klinefelter syndrome is characterized by one or more additional X chromosomes. These individuals are tall with male secondary sexual characteristics that may be deficient, and they may be learning disabled. An absence of an X chromosome results in Turner syndrome. Triple X and trisomy 13 are not abnormalities that involve one or more additional X chromosomes in a male (Klinefelter syndrome).