duchenne muscular dystrophy is a sex linked abnormality
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HESI Maternity 55 Questions

1. Is Duchenne muscular dystrophy a sex-linked abnormality?

Correct answer: A

Rationale: The correct answer is A: TRUE. Duchenne muscular dystrophy is an X-linked recessive disorder, primarily affecting males. This is due to the inheritance of the mutated gene on the X chromosome. Choices B, C, and D are incorrect because Duchenne muscular dystrophy is specifically classified as a sex-linked disorder affecting males due to the inheritance pattern.

2. A healthcare provider is assessing a newborn immediately following a vaginal birth. For which of the following findings should the provider intervene?

Correct answer: D

Rationale: Sternal retractions in a newborn indicate respiratory distress and require immediate intervention. This finding suggests the newborn is having difficulty breathing and needs prompt attention to ensure adequate oxygenation. Molding, the overlapping of fetal skull bones during birth, is a normal and expected process that does not require intervention. Vernix Caseosa, the protective white substance on the skin, and Acrocyanosis, the bluish discoloration of extremities, are both common and benign findings in newborns that do not necessitate immediate action. Therefore, the healthcare provider should focus on addressing sternal retractions to manage the respiratory distress effectively.

3. Matt is a 36-year-old male. In the past year, he has noticed that his limbs sometimes move on their own, and he has also started having trouble remembering things and doing simple calculations. Matt’s father and grandfather were also known to have similar problems during their adulthood. Matt is most likely suffering from:

Correct answer: D

Rationale: Matt is exhibiting symptoms typical of Huntington’s disease (HD), a hereditary condition characterized by involuntary movements, cognitive impairment, and behavioral changes. The fact that Matt's father and grandfather had similar issues supports the genetic nature of the disease. Phenylketonuria (PKU) is a metabolic disorder that affects amino acid metabolism, not presenting with the symptoms described. Cystic fibrosis primarily affects the respiratory and digestive systems, not causing the neurological symptoms described. Turner syndrome is a genetic condition affecting females and is not associated with the symptoms described in the case of Matt.

4. Twenty-year-old Jack is extremely tall and has very thick facial hair. Most of his male secondary sex characteristics are also more pronounced than men of his age. In this scenario, Jack is most likely:

Correct answer: A

Rationale: The correct answer is A: an XYY male. Individuals with XYY syndrome often exhibit increased height and more pronounced secondary male characteristics, such as thick facial hair. Choice B, Klinefelter syndrome (XXY), typically presents with less prominent male secondary sex characteristics due to the presence of an extra X chromosome. Choice C, XXY male, refers to Klinefelter syndrome, which does not align with the description of Jack having more pronounced male secondary sex characteristics. Choice D, Down syndrome, is caused by a trisomy of chromosome 21 and is not associated with the physical characteristics described in the scenario.

5. According to a study in the year 2013 by Fellman, if a woman is a twin, if her mother was a twin, or if she has previously borne twins, then:

Correct answer: D

Rationale: According to the study, the chances of a woman bearing twins increase if she is a twin herself, if her mother was a twin, or if she has previously borne twins. Therefore, the correct answer is D. Choice A is incorrect because the study does not specify that she will bear only monozygotic twins. Choice B is incorrect as the study does not mention any decrease in the chances of becoming pregnant. Choice C is incorrect because the study does not provide information about the woman's health status, focusing instead on the likelihood of bearing twins.

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