Georgia Military College

PATHO HCR 240

1)A newborn has been diagnosed with phenylketonuria (PKU). The nurse teaches the mother about a special diet to restrict phenylalanine intake. When does this diet need to be initiated?

2. A biochemical event (e.g., nucleotide change, deletion, or insertion) that produces a new allele is called:

3. Which term is used to describe the process when a child receives two members of a gene pair, one inherited from the mother and the other from the father?

4. A mother who has one mutant allele on the X chromosome and one normal allele asks the nurse what the percentage is of passing it on to a daughter to be a carrier. The best response would be:

5. A young man has been diagnosed with Huntington disease following several months of progressive muscle weakness. The man has two young children: one boy and one girl. The nurse should teach the man that:

6. A couple is scheduled to obtain familial lineage studies. The nurse is providing education. To which aspect of the DNA analysis should the woman pay particular attention regarding inherited disorders?

7. The nurse is learning about mitochondrial DNA mutations. She learns that they generally affect which tissues and organs?

8. The nurse is preparing a presentation on disorders of organ systems associated with mitochondrial DNA (mtDNA) mutations. Which disorders will she include? Select all that apply.
   1. Leigh disease
   2. Kearns-Sayre syndrome
   3. Myoclonic epilepsy with ragged red fibers

9. Which of the following is a cytogenetic disease?

10. The nurse assessing a client with Klinefelter syndrome would evaluate which signs as being expected findings? Select all that apply.
    1. Gynecomastia
    2. Testicular atrophy

11. Mendelian inheritance characteristics are most closely associated with which one of the following?

12. A client is admitted with a medical history of Marfan Syndrome. This disorder is manifested by which abnormality?

13. The nurse is providing education to the parent of a male diagnosed with Marfan syndrome. The nurse knows that her teaching has been effective when the parent states which of the following?

14. The health care provider should assess closely for which cardiovascular defects associated with Marfan syndrome? Select all that apply.
    1. Mitral valve prolapse
    2. Aortic dissection
    3. Aortic weakness

15. Marfan syndrome, which is a connective tissue disorder, affects several organ systems. The most life- threatening aspects of the disorder are caused by defects in which system?

16. What will likely be the outcome when a male child inherits an X-linked disorder from his heterozygous carrier mother?

17. The nurse is assessing a prepubertal male with fragile X syndrome. Assessment findings would include:

18. A nurse providing genetic counseling to a male with the gene for fragile X syndrome includes which information?

19. What is the risk that a mother with the genetic mutation that causes fragile X syndrome will pass the gene on to offspring?

20. The parents of a 5-year-old boy are having their son evaluated for mental and physical abnormalities. He is showing signs of intellectual disability, and they fear he may have fragile X syndrome. To either confirm or deny the presence of fragile X, the laboratory should test for which gene?

21. An adolescent presents at the clinic with reports of pedunculated lesions projecting from the skin on the trunk area. The nurse knows that this is a sign of:

22. A nurse caring for a child with type 1 neurofibromatosis notes that the child has pigmented nodules of the iris. Which of the following is the nurse reporting?

23. A nurse notes that a client with neurofibromatosis has eight flat, cutaneous, light brown spots (2 cm in diameter each) over the trunk area. The nurse documents these as being:

24. The nurse knows that her orientee needs to study more when the orientee tells her that        is a congenital defect that arises through multifactorial inheritance?

25. A woman who is a carrier for which disease possesses the greatest likelihood of passing the disease to her future children when heterozygous pairing exists?

26. A 16-year-old male presents to the clinic complaining of headaches, trouble hearing the teacher in the front of the classroom, and ringing in the ears. He also revealed that every time he goes swimming underwater, he gets disorientated (which never happened when he was younger). Given these manifestations, the health care provider is going to start testing for:

27. Which characteristic of genetic disorders involves a single-gene trait?

28. A clinician who works on a cardiac care unit of a hospital is providing care for a number of clients. Which client most likely has a genetic disorder arising from inheritance of a single gene?

29. An infant who is 4 days postpartum has been diagnosed with a single-gene disorder. The parents of the child have a number of questions about the etiology of the health problem, which the physician is attempting to address in detail. Which teaching point most accurately captures an aspect of single-gene congenital disorders?

30. Which statement is true about recessive gene inheritance?

31. A nurse is assessing two children with the same genetic disorder where one child is severely impacted and the other is not. Which genetic characteristic is this an example of?

32. In one family, a son was born with polydactyly toes while his sister had polydactyly fingers. In explaining this phenomenon in genetic terms to the parents, which concept should be addressed?

33. While teaching a client, the nurse should emphasize which information about an autosomal dominant disorder?

34. The provider is counseling a client who has just been diagnosed with adult polycystic kidney disease, an autosomal dominant disorder. Which statement regarding the transmission of genetic disease is accurate?

35. Polydactyly may be expressed in either the fingers or toes. This is an example of which of the following?

36. A pregnant woman's ultrasound reveals intrauterine growth retardation (IUGR) and a TORCH agent is thought to be the cause. Which nursing action is appropriate?