ABGC Board Exam (Genetic Counseling) Q&A Latest
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ABGC
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ABGC
ABGC Board Exam (Genetic Counseling) Q&A Latest
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| Uploaded on: | May 12, 2025 |
| Last updated: | May 12, 2025 |
| Number of pages: | 7 |
| Written in: | 2025/2026 |
| Type: | Exam (elaborations) |
| Contains: | Questions & Answers |
| Tags: | ABGC Board Exam (Genetic Counseling) Q&A Latest |
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ABGC Board Exam (Genetic Counseling) | Q&A Latest Update 2025/2026 | 100% PASS Osteogenesis imperfecta - Answer -Genes: COL1A1 (ch17; more severe pheno w/mutn b/c there are 2 alpha strands vs. 1 beta strand), COL1A2 (ch7), form protein triple helix Type I -- AD, mild, blue sclera, brittle bones, no deformity collagen: normal quality, AMOUNT is reduced Type II: AD, neonatal lethal, abnormal collagen Type III: AD, progressive deforming, fractures at birth, small, blue sclera Type IV: AD, normal sclera, mild/mod bone deformity, short stature, fractures Alzheimer disease - Answer -Usually complex inheritance, FDR risk 38% over lifetime APOe4 allele confers risk, modifier of monogenic AD genes (causes earlier onset). APOe2 allele is protective for AD. AD genes: APP, PSEN1 (50% of AD cases), PSEN2 Pleiotropy - Answer -one gene causes more than one disease. many examples, but APOe is one -- hypercholesterolemia and Alz D Large deletions in mtDNA - Answer -Usually NOT maternally-inherited
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