Inheritance Patterns
Overall, about 10% of medullary carcinomas have a familial genetic association, with autosomal dominant inheritance pattern.
What our notes say
- Overall, about 10% of medullary carcinomas have a familial genetic association, with autosomal dominant inheritance pattern. (Chemical pathology and Endocrine pathology — Past Paper Questions & Answers)
- Familial inheritance pattern was noted on history elicitation. (pathology essays — Past Paper Questions & Answers)
- Compare and contrast autosomal dominant and autosomal recessive inheritance patterns, giving two examples of disorders for each. (General & Systemic Pathology Exam: MBChB Year 3 Questions)
- | Inheritance pattern | Vertical transmission — disease typically appears in every generation | Often skips generations — appears in siblings of a generation, not necessarily parents | (Genetic Disorders CAT: Key Terms & Inheritance Patterns Explained)
- It follows simple dominant-recessive inheritance patterns (Genetics & Disease: Muscular Dystrophy, CF, Marfan, Diabetes, Cancer)
- Mendelian (single-gene) disorders — one gene, one major effect, predictable inheritance pattern (Clinical Genetics: Master Mendelian Disorders & Molecular Basis)
Study material on Inheritance Patterns
- Genetic Disorders CAT: Key Terms & Inheritance Patterns Explained
- GENETIC DISORDERS SAQs EXAMINATION
- Oncopathology And Genetic Disorders End Sem Cat
- Mbchb Cat - Genetics Answer Key MCQs
- Chemical Pathology MCQs: Clinical Chemistry, Endocrine & Renal
- Genetic Disorders MCQs Examination
Practice questions on Inheritance Patterns
Skipped generations, male-to-male transmission, equal sex distribution, disease only in homozygotes, carriers are heterozygous — inheritance pattern?
- Autosomal dominant
- Autosomal recessive
- X-linked dominant
- X-linked recessive
- Mitochondrial
Answer: B. Classic autosomal recessive pattern. ---
Which inheritance pattern typically shows that the trait does not affect parents but may affect siblings?
- Autosomal dominant
- Autosomal recessive
- X-linked dominant
- Mitochondrial
- Occurs only after chronic exposure
Answer: B. Autosomal recessive inheritance typically shows unaffected parents (both carriers) with affected siblings, as the trait requires two copies of the mutant allele to manifest. ---
: Vitamin D-resistant rickets represents which unusual inheritance pattern?
- Autosomal recessive
- Mitochondrial
- X-linked dominant
- Y-linked
- Usually mediated by non-specific mechanisms
Answer: C. Vitamin D-resistant rickets is one of the few X-linked dominant conditions, making it an exception to the rule that almost all X-linked disorders are recessive. ---
: Almost all inborn errors of metabolism follow which inheritance pattern?
- Autosomal dominant
- Autosomal recessive
- X-linked
- Mitochondrial
- Usually mediated by non-specific mechanisms
Answer: B. Almost all inborn errors of metabolism are autosomal recessive disorders, where enzyme deficiencies manifest only in the homozygous recessive state. ---
A child born to phenotypically normal parents develops cystic fibrosis. The inheritance pattern is most consistent with: Two unaffected carrier parents having an affected child is the hallmark of autosomal recessive inheritance. ---
- Autosomal dominant
- Autosomal recessive
- X-linked recessive
- X-linked dominant
- Mitochondrial
Answer: B.