Should Know Study Set for ABGC Boards Q&A Latest Update
Course:
ABGC
Institution:
ABGC
Should Know Study Set for ABGC Boards Q&A Latest Update
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✅ Prepared for 2025/2026 test cycle
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| Uploaded on: | May 12, 2025 |
| Last updated: | May 12, 2025 |
| Number of pages: | 20 |
| Written in: | 2025/2026 |
| Type: | Exam (elaborations) |
| Contains: | Questions & Answers |
| Tags: | Should Know Study Set for ABGC Boards Q&A Latest Update |
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Should Know Study Set for ABGC Boards | Q&A Latest Update 2025/2026 | 100% PASS Angelman Syndrome causes (expression and % of total) - Answer **paternal imprinting defect, should be maternal expression 5-7 kb deletion on maternal chr15q11.2-13 (60-70%) UBE3A maternal deletion (11%) Paternal UPD15 (3-7%) Angelman testing strategy and condition features - Answer -methylation first since finds ~80% of cases then UBE3A seq and del/dup features: happy demeanor, abnormal gait, seizures, delayed/absent speech Prader-Willi Syndrome causes (expression and % of total) - Answer **maternal imprinting defect, should be paternal expression of region 5-6 kb deletion on paternal chr15q11.2-13 (60-70%) Deletion involves SNRPN gene Maternal UPD15 (20-30%)
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