Genetics (2024) Pamela Trapane, MD

Description

A comprehensive review section covering key definitions in genetic disorders, major chromosomal defects (Autosomal Trisomy and Sex Chromosome Syndromes), large deletion and microdeletion syndromes (e.g., DiGeorge, Prader-Willi), single gene defects, patterns of inheritance, neurocutaneous syndromes, familial cancer syndromes, and genetic disease risk assessment and diagnostic testing.