遗传病的诊断医学课件.pptx

遗传病的诊断;;第一节 临床诊断;第二节 遗传学诊断;Types of genetic abnormality遗传异常类型;Genome Mutation基因组突变;Chromosome mutation染色体突变;Incidence of chromosome abnormalities in newborn/ 染色体异常发生率;Gene Mutation 基因突变;Approaches of Tests; Banding 5-10 Mb ;Chromosomes photographed during metaphase or prometaphase and arranged in a standard sequence G-banding (G显带） Standard 550 bands (5-10 Mb) High Resolution 850 bands (2-3 Mb) Whole genome level of Chromosome number and structure variations;Karyotype;Triploidy??倍体(69,XXX);1/900 live births（出生率） Leading cause of mental retardation and heart