Author Question: A patient has been told that her unborn child will most likely have Down syndrome. The nurse ... (Read 42 times)

yoroshambo · **on:** Jun 25, 2018

A patient has been told that her unborn child will most likely have Down syndrome. The nurse realizes this diagnosis is consistent with which genetic finding?

1. trisomy
2. monosomy
3. translocation
4. deletions

Question 2

While assessing a patient, the nurse notes an irregularity that has been observed in other patients, but on an inconsistent basis. What did the nurse most likely discover in this patient?

1. a polymorphism
2. a mutation
3. a single-gene inheritance pattern
4. an X-linked inheritance pattern

rachel · **Reply #1 on:** Jun 25, 2018

Answer to Question 1

Correct Answer: 1

Trisomy refers to the presence of a third or extra chromosome instead of the normal pair of a particular chromosome. The most common type of trisomy in infants is trisomy 21 or Down syndrome. Monosomy refers to the presence of only one chromosome instead of the normal pair of chromosomes. Translocation (chromosomal reshuffling) occurs when a segment of a chromosome transfers or moves and attaches itself to another chromosome. Structural rearrangements of chromosomes may result from deletions or loss of a chromosome segment or piece.

Answer to Question 2

Correct Answer: 1

A polymorphism is a change in DNA sequence that has been identified in more than 1 of the population and is, thus, more commonly observed than a mutation. Polymorphisms differ from mutations in that they are observed more frequently in the general population than mutations. A mutation is a change in DNA sequence that has been identified in less than 1 of the population. A single-gene inheritance pattern will follow a pattern of being present in every member of a generation or will skip a generation, depending if the alteration is dominant or recessive. In the X-linked inheritance pattern, the mutant gene is located on the X chromosome. Males have only one X chromosome with no counterpart for its genes therefore the alteration will appear in all males. Because the female as two X chromosomes, the alteration may or may not occur.