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."
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.
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