Paeds Vivas · genetics-dysmorphology-and-metabolism
Genetic history, pedigree construction and inheritance patterns — branching viva
Branching viva on the genetic family history: constructing a standardised three-generation pedigree, recognising each inheritance pattern from its shape, applying recurrence-risk arithmetic, and counselling a consanguineous couple while handling the confounders of penetrance, mosaicism and anticipation.
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Target exams
RACP DCEMRCPCH ClinicalRCPSC Pediatrics
Prompt
Outpatient setting: a three-year-old boy with global developmental delay whose parents are first cousins and who has a maternal uncle who died in infancy. The examiner asks: how do you construct the pedigree, what does the shape tell you about the inheritance pattern, and what is the recurrence risk — then branches to the same family producing a 15q11-q13 deletion in the next child, then to an isolated male with Duchenne muscular dystrophy and the question of germline mosaicism.
Opening question
A three-year-old boy with global developmental delay has parents who are first cousins and a maternal uncle who died in infancy. How do you construct the pedigree, and what does the shape of the family history tell you about the most likely inheritance pattern? [1] [2]
References4ShowHide
- [1]Bennett RL, French KS, Resta RG, Doyle DL. Standardized human pedigree nomenclature: update and assessment of the recommendations of the National Society of Genetic Counselors. J Genet Couns, 2008.PMID 18792771
- [2]Bennett RL, Steinhaus KA, Uhrich SB, et al. Recommendations for standardized human pedigree nomenclature. Am J Hum Genet, 1995.PMID 7887430
- [3]Gelb BD. Incomplete penetrance and variable expressivity: Old concepts, new urgency. Am J Hum Genet, 2025.PMID 40054435
- [4]Verebi C, Gravrand V, Bienvenu T, et al. Germline mosaicism in Duchenne muscular dystrophy. J Genet Couns, 2025.PMID 38895972