There are two genetic disorders that result from mutation in imprinted genes: Prader-Willi syndrome and Angelman syndrome.  Prader-Willi syndrome results from deletion of region 15q11-q13, which in healthy individuals is a region imprinted such that only the paternal copy is expressed. In the pedigree above, individual I-1 is heterozygous for a deletion of region 15q11-q13 and does not have Prader-Willi syndrome.  Individuals I-2 and II-1 are both homozygous wild type for the region.  Which individuals in the pedigree might have Prader-Willi syndrome? (Who could potentially have the syndrome, based on what alleles it is possible for them to inherit and express?)   Question 9 options:   Only II-2 could have Prader-Willi syndrome   III-1 could have Prader-Willi syndrome in the presented pedigree; II-2 could only have had it if she were male   Both II-2 and III-1 could have Prader-Willi syndrome   II-2 could have Prader-Willi syndrome only if I-2 were also heterozygous   No one in the pedigree could have Prader-Willi syndrome

Essentials of Pharmacology for Health Professions
7th Edition
ISBN:9781305441620
Author:WOODROW
Publisher:WOODROW
Chapter5: Abbreviations And Systems Of Measurement
Section: Chapter Questions
Problem 27CRQ
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There are two genetic disorders that result from mutation in imprinted genes: Prader-Willi syndrome and Angelman syndrome.  Prader-Willi syndrome results from deletion of region 15q11-q13, which in healthy individuals is a region imprinted such that only the paternal copy is expressed.

In the pedigree above, individual I-1 is heterozygous for a deletion of region 15q11-q13 and does not have Prader-Willi syndrome.  Individuals I-2 and II-1 are both homozygous wild type for the region.  Which individuals in the pedigree might have Prader-Willi syndrome? (Who could potentially have the syndrome, based on what alleles it is possible for them to inherit and express?)

 

Question 9 options:

 

Only II-2 could have Prader-Willi syndrome

 

III-1 could have Prader-Willi syndrome in the presented pedigree; II-2 could only have had it if she were male

 

Both II-2 and III-1 could have Prader-Willi syndrome

 

II-2 could have Prader-Willi syndrome only if I-2 were also heterozygous

 

No one in the pedigree could have Prader-Willi syndrome

 

Only III-1 could have Prader-Willi syndrome

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II
III
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Transcribed Image Text:I II III 1 '1 '1 O 2 2
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