课件教案遗传杨clinical cytogenetics.pptxVIP

Clinical Cytogenetics: Disorders of the Autosomes  and the Sex Chromosomes;Chromosome Disease in Clinic; Trisomy 21 Syndrome Trisomy 18 Syndrome Trisomy 13 Syndrome Cri Du Chat Syndrome Microdeletion Syndrome;Trisomy 21 Syndrome;特殊面容：鼻梁低、眼距宽、外眼角上斜、 耳位低、张嘴吐舌;Clinical Features; The Category ;47, XY, +21; Etiology of Trisomy 21;Robertsonian Translocation;Balanced Translocation Carrier; 14q21q Translocation carrier;(viable);50% Trisomy 21 50% Monosomy 21;Nondisjunction in mitosis;The genes on chromosome 21 ; Risk of Trisomy 21;Trisomy 18 Syndrome;Clinical Features;Clinical Features;Clinical Features;Trisomy 18 Syndrome; Etiology of Trisomy 18 Syndrome; Risk of Trisomy 18 Syndrome;Trisomy 13 Syndrome;Clinical Features;Varying degrees of mental retardation Cleft lip Cleft palate（唇裂腭裂） Polydactyly (postaxial)（多指） Equinovarus（马蹄内翻足）;耳位低，耳廓畸形，;; Etiology of Trisomy 13 Syndrome; Risk of Trisomy 13 syndrome;Cri Du Chat Syndrome;1 in 50000 newborns;Clinical Features;Risk of Cri Du Chat Syndrome; Etiology of Cri Du Chat Syndrome;Genomic Disorders （基因组疾病） ; Several dysmorphic syndrome are associated with small, but sometimes cytogenetically visible, deletions, leading to a form of genetic imbalance referred to as segmental aneusomy (部分异倍体). That can result in contiguous gene syndrome.;Microdeletion Syndrome;Microdeletion or Contiguous gene Syndrome;Unequal Crossing Over;时间;The Sex Chromosomes and Their Abnormalities;The Chromosomal Basis of Sex Determination;The Y Chromosome;TDF：testis-determining factor;Sex-reversal Disorders;Etiology of Sex- reversal Disorders;The X Chromatin( the Barr body);The Lyon hypothesis;Random X-chromosome Inactivation;The X Inactivation Center (XIC) and the XIST Gene;The X Inactivation Center (XIC) and the XIST Gene;45，X;Escape From Inactivation;Nonrandom X Inactivation;Incidence of Sex Chromosome Abnormalities; Karyotype 47,XXY 1/1000 male live birt