Which of the following statements is true regarding Prader-Willi syndrome?

Prepare for the AAB Molecular Diagnostics Test with focused study materials and practice questions. Gain insights into questions, formats, and key topics to excel in your exam and advance your career in molecular diagnostics.

Prader-Willi syndrome (PWS) is primarily linked to genetic anomalies affecting chromosome 15, particularly involving the paternal allele. The most common cause of PWS is due to uniparental disomy, where a person inherits two copies of chromosome 15 from one parent and none from the other. In the case of PWS, this often results in the absence of the paternal genes on that chromosome, leading to the development of the syndrome.

This genetic mechanism is key to understanding the disorder, as the clinical features of PWS, which include obesity, intellectual disability, and behavioral problems, arise from the lack of these specific paternal genes. Therefore, recognizing that Prader-Willi syndrome is associated with uniparental disomy is crucial to grasping its genetic basis and its inheritance pattern.

The other statements do not align with the established understanding of Prader-Willi syndrome. The idea that it is caused by an extra chromosome is incorrect, as there is no involvement of an additional chromosome in PWS. It is also incorrect to classify Prader-Willi syndrome as an autosomal dominant disorder since it does not follow this inheritance pattern; rather, it is linked to the expression of genes based heavily on parental origin. Additionally, Pr

Subscribe

Get the latest from Examzify

You can unsubscribe at any time. Read our privacy policy