遗传病的临床诊断和哈佛遗传咨询培训.pptxVIP

Clinical diagnosis of genetic;The background;Clinical Genetics is the ONLY field of medicine that is an offshoot of science → ongoing consequences in a field where practice is led by research ∴ A clinical geneticist = Clinical acumen + scientific method;;Frequency of birth defects depends on ascertainment , time period, definitions;1. Diagnosis (often with a clinical geneticist);Approaching pathology from a clinical genetics perspective;;Smith-Magenis;;;;Deformation;Dysruption;Malformation;;;Case examples;;Diagnostic options;;;Case 2: A tall boy with a slightly large head, promine