1 MCQs in Pediatrics for NEET PG
A 3-month-old male infant presents with severe hypotonia, poor feeding, and failure to thrive. Physical examination reveals small hands and feet, cryptorchidism, and characteristic facial features including almond-shaped eyes and a narrow bifrontal diameter. Genetic testing confirms Prader-Willi syndrome. The underlying mechanism marked as **D** in the pedigree diagram—genomic imprinting disorder—explains why this child's condition results from loss of paternal gene expression in the 15q11-13 region. Which of the following diagnostic approaches is most sensitive for detecting ALL molecular subtypes of this imprinting disorder, including paternal microdeletion, maternal uniparental disomy, and imprinting center defects?
Ready to test yourself?
Test your Pediatrics knowledge with AI-powered MCQs and detailed explanations — no signup required to try.
Sign up free and practice all 1 Pedigree — Prader-Willi Imprinting Disorder MCQs with AI-powered explanations tailored to your performance.
Create Free Account