The parents of a newborn diagnosed with cri du chat syndrome ...

[Tirant22]

The parents of a newborn diagnosed with cri du chat syndrome request information about this disorder. What statements by the nurse are appropriate?
 
  Select all that apply.
  1. Your baby's chromosomal makeup is unbalanced.
  2. These types of genetic problems are often the result of the patient missing some genes or having too much genetic material.
  3. This syndrome is genetically related to trisomy 21.
  4. Your baby's syndrome is the result of a large deletion on the short arm of chromosome 5.
  5. Your baby has the low-set ears and mewing cry that is associated with this syndrome.

Question 2

A 29-year-old patient whose mother died from an unspecified cancer at the age of 33 has the following diagnostic test results. What would be appropriate for this patient?
 
  1. The patient is scheduled for a prostate exam.
  2. The patient is scheduled for a colonoscopy.
  3. The patient is scheduled for a mammogram.
  4. The patient is scheduled for an ovarian cancer screening examination.

[Yixagurpuldink]

Answer to Question 1

Correct Answer: 1, 2, 4, 5
A chromosomal alteration that includes a missing or additional whole chromosome or segment of a chromosome is an unbalanced rearrangement. An unbalanced rearrangement can result in missing genes, confusing directions from the genes, or too much gene product. Cri du chat syndrome results from a large deletion on the short arm of chromosome 5. Patients with cri du chat have mental retardation, crying that sounds like a cat mewing, and low-set ears. Translocation between chromosomes 9 and 22 is responsible for trisomy 21.

Answer to Question 2

Correct Answer: 2
This patient should be scheduled for a colonoscopy at least every 2 years beginning at age 25. This is important for this patient because the patient may have a positive family history and mutations in the MLH1/MSH2 gene, which increase the risk for hereditary nonpolyposis colorectal cancer. Prostate exam and mammogram are not indicated for this patient. Patients with breast cancer should be screened for ovarian cancer because they are closely related genetically.