Q:

The MOST common genetic causeof Prader-Willi syndrome is

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The MOST common genetic causeof Prader-Willi syndrome is


  1. inheriting both chromosomes 15 from the mother
  2. deletion of the maternal 15q12
  3. deletion of the paternal15q12
  4. mutation in an imprinted gene
  5. mutation in the imprinting center

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(C). in about 70% of cases missing paternal 15q12 lead to what is called genomic imprinting. The same clinical effect if the child inherted the same chromosome (15) from the mother (25-29%). In Angelman syndrome, paternal UPD of chromosome 15 is rarer and is observed in approximately 5% of the cases (missing the maternal chromosome 15)

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