In an Autosomal Recessive (AR) disorder, one parent is normal and the other is carrier and the child is also affected. What is the reason
Correct Answer: Uniparental disomy
Description: Uniparental disomy refers to the situation in which 2 copies of a chromosome come from the same parent, instead of 1 copy coming from the mother, and 1 copy coming from the father. Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are examples of disorders that can be caused by uniparental disomy. Reference: GHAI Essential pediatrics, 8th edition
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Pediatrics
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