冬1-Clinic_Genetics-1-2015.pptVIP

Sex chromosome in live-birth: XO, XXX, XXY, XYY, XXXX, XXXXX X chromosome inactivation mechanism Less phenotypic alterations Resulted from chromosome breakage and reunion. Unbalanced structural abnormality 不平衡染色体结构异常 With loss or gain of chromosomal material Deletion, duplication, insertion, isochromosome and ring chromosome 2．染色体结构异常 Structural Abnormalities Cri Du Chat (5p-) 、Wolf-Hirschhorn（4p-) 综合征 染色体结构异常 46, XY, del(5)(qter-cen-p15:) 4p- syndrome Angelman 综合症 (AS) Parader-Willi 综合征(PWS) 染色体微缺失 片断增减 4 Mb DNA，光学显微镜无法分辨 诊断必须借助 FISH，CGH 染色体病 ? 基因的载体突变（畸变） 染色体或染色体片段的增加或减