Genetics with Prof. Banfi
39 model answers (14 flagged critical) for the medical-genetics half of the September 17, 2026 oral — rebuilt from the archived genetics-pathology tracker and the transcribed oral recall notes.
How Banfi runs the oral
- →Classify before you describe: inheritance pattern → allele class (LOF/GOF, amorph/hypomorph/hypermorph/neomorph) → mechanism → phenotype.
- →Every disease answer must end with 'which test would I request, and why that one': karyotype, FISH, array-CGH, targeted sequencing or NGS panel/exome.
- →State resolution limits out loud — karyotype ~5–10 Mb, array-CGH blind to balanced rearrangements, FISH needs a known locus.
- →For imprinting questions always name which parent's allele is normally expressed before naming the mechanism.
- →Quote recurrence risks as numbers (25%, 50%, 1/4 of all children) and add the exceptions: de novo, mosaicism, penetrance, non-paternity.
Department of Precision Medicine — Professors
University of Campania “Luigi Vanvitelli”, Naples. Prof. Banfi holds the Medical Genetics chair; the General Pathology side of the exam is covered by the colleagues below.
Genomic medicine, eye-disease genetics, microRNA regulation in inherited retinal dystrophies
Director of the Graduate School of Medical Genetics; Principal Investigator at TIGEM. Examines the genetics half of the oral.
Epigenetics of cancer, HDAC/HAT inhibitors, differentiation therapy
Steroid receptor signalling, hormone-dependent cancers, endocrine therapy resistance
Androgen/estrogen receptor cross-talk, cancer-associated fibroblasts, inherited disease models
Neoplasia, EMT and the metastatic cascade, tumour microenvironment
Question bank
Diagnostic Techniques
Karyotype, FISH, array-CGH, NGS — Banfi always starts from 'which test would you propose?'
Mutant Allele Classes
Banfi's signature question: classify the allele before you describe the disease.
Triplet Repeats & Dynamic Mutations
Fragile X, Huntington, myotonic dystrophy — anticipation, imprinting of the repeat, premutation.
Imprinting & Uniparental Disomy
Prader-Willi, Angelman, Silver-Russell — always state which parental allele is normally expressed.
Chromosomal Disorders
Aneuploidies, translocations, inversions — and the reproductive risk of balanced carriers.
X-linked Disease & Dystrophies
Duchenne/Becker, Rett, AIS — inheritance logic plus the reading-frame rule.
Population & Multifactorial Genetics
Cystic fibrosis, thalassemia, GWAS and linkage — the frequency and 'why here?' questions.