1
Q
When is Guthrie test performed?
A
Usually day 5, minimum >12h after delivery
2
Q
What is uniparental disomy?
A
One pair of chromosomes is formed by loss of one parent’s chromosome and duplication of the other parent’s chromosome
3
Q
Example of uniparental disomy?
A
UPD paternal with loss of maternal chromosome 15 = Angelman syndrome
UPD maternal with loss of paternal chromosome 15 = Prader-Willi syndrome
MRCOG Part 1
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