ABMGG Clinical Genetics & Genomics Practice Questions - Clinical Genetics And Genomics (ABMGG) Exam

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A newborn presents with hypotonia, almond-shaped eyes, small hands and feet, and feeding difficulties. Methylation analysis of chromosome 15q11-q13 shows a maternal-only pattern. What is the most likely diagnosis?

Prader-Willi syndrome Angelman syndrome Williams syndrome Smith-Magenis syndrome

Correct Answer:

Prader-Willi syndrome

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