Pediatric Genetics Cases for ABGC and ABMGG

Organize genetics review around the presentations you encounter in pediatrics: developmental differences, growth concerns, congenital anomalies, metabolic emergencies, and hereditary cancer risk in families.

Connect the presentation with the mechanism

For each case type, ask whether the question is about recognition, test selection, interpretation, recurrence, or management. A condition name is not the same as understanding the mechanism and its implications for the family.

Use condition-specific references such as GeneReviews for up-to-date evaluation and management information. Board preparation based only on memorized fact lists may not transfer to an unfamiliar presentation.

Practice case: A new diagnosis and future family risk

A five-year-old child has multiple café-au-lait macules, axillary freckling, and a confirmed constitutional heterozygous pathogenic NF1 variant. The variant is not detected in either parent's blood. What is the probability that each future child of this patient would inherit the NF1 variant?

1. Close to zero because the variant was apparently de novo.
2. 25% because neither grandparent has the variant detected in blood.
3. 50% because the patient has a constitutional heterozygous autosomal dominant variant.
4. 100% because NF1 has high penetrance.

Answer: C. An apparently de novo origin does not remove the patient's ability to transmit the variant. Each future child has a 50% probability of inheriting it. High penetrance concerns clinical expression after inheritance; it does not make transmission certain. NF1 findings can vary considerably, so the parent's presentation does not predict the child's severity.

Neurofibromatosis 1 GeneReviews

Study takeaway: Separate how a variant arose from how it can be passed on. Identify the inheritance model before calculating risk.

Review condition knowledge with the original 101 Must-Know Genetic Conditions flashcards, then apply the concept in medical genetics practice questions.

Use free resources as a starting point

The free Pediatric Genetics Workbook offers board-style questions with explanations — a focused introduction to applying genetics concepts in pediatric case-based review. It is a genetics resource, not a complete pediatric board preparation course.

Connect pediatric cases with your genetics exam

Use the current ABGC or ABMGG outline to decide which pediatric genetics concepts to review. Focus on the decision in each case: recognition, mechanism, test selection, interpretation, family risk, or management principles.

For calculation practice, use the free Math Workbook. For family-history interpretation, use the free Pedigree Workbook. Apply these concepts in the shared core and exam-focused questions relevant to your preparation in EveryGene Academy.

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