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. Which neonatal complications are associated with hypertension in the mother?

Correct answer: A

Rationale: Neonatal complications associated with maternal hypertension are primarily due to placental insufficiency. The correct answer is A, which includes Intrauterine Growth Restriction (IUGR) and prematurity. These complications arise from inadequate blood flow to the fetus, leading to growth restriction and premature birth. Choices B, seizures, and cerebral hemorrhage are more commonly maternal complications rather than neonatal ones. Choice C, hepatic or renal dysfunction, pertains to maternal complications of hypertensive disorders in pregnancy, not neonatal issues. Choice D, placental abruption, and Disseminated Intravascular Coagulation (DIC) are conditions linked to maternal morbidity and mortality, not neonatal complications.

3. A newborn is 24 hours old, and a healthcare provider is caring for them. Which of the following laboratory findings should the healthcare provider report to the provider?

Correct answer: D

Rationale: The correct answer is D: WBC count 32,000/mm3. A WBC count of 32,000/mm3 is significantly elevated in a newborn and could indicate an infection, which needs immediate attention and intervention. High white blood cell counts in newborns can be concerning as they may suggest an ongoing infection or other underlying issues that require prompt medical evaluation and treatment. Choices A, B, and C are within normal ranges for a newborn and would not typically warrant immediate reporting to the provider. Hgb levels of 20 g/dL (Choice A) are high for newborns, but this is not as concerning as a significantly elevated WBC count. Bilirubin levels of 2 mg/dL (Choice B) are within normal limits for a newborn and do not indicate immediate issues. Platelet count of 200,000/mm3 (Choice C) is also within the normal range for a newborn and would not require immediate reporting.

4. Daisy was always unusually short for her age. She was unable to conceive a child after marriage, and upon visiting a doctor, she was prescribed estrogen replacement therapy. Daisy is most likely suffering from:

Correct answer: C

Rationale: Daisy's symptoms of short stature and infertility, along with the prescription of estrogen replacement therapy, are indicative of Turner syndrome. Turner syndrome is a genetic condition in which a female is partially or completely missing one X chromosome. This results in short stature, infertility, and other physical characteristics. Phenylketonuria (PKU) is a metabolic disorder caused by a mutation in the gene responsible for the breakdown of the amino acid phenylalanine. Cystic fibrosis is a genetic disorder affecting the respiratory and digestive systems. Huntington's disease (HD) is a neurodegenerative disorder that affects muscle coordination and leads to cognitive decline.

5. Rico is a man who has enlarged breasts and suffers from mild mental retardation. He has a problem learning languages, and his body produces less of the male sex hormone testosterone than normal males. Rico is most likely suffering from:

Correct answer: A

Rationale: Rico's symptoms align with Klinefelter syndrome, which is characterized by an extra X chromosome in males (XXY). Enlarged breasts (gynecomastia), mild mental retardation, learning difficulties, and reduced testosterone production are common features of Klinefelter syndrome. Choice B, Tay-Sachs disease, is a genetic disorder that affects the nervous system and is not associated with the symptoms described. Choice C, Turner syndrome, occurs in females with a missing or partially missing X chromosome and does not fit Rico's profile. Choice D, Down syndrome, is caused by an extra copy of chromosome 21 and typically does not present with the symptoms mentioned for Rico.

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