唐氏综合征的筛查课件.pptVIP

Chromosomes and Inheritance * G. Podgorski, Biol 1010 * Chromosomes and Inheritance * G. Podgorski, Biol 1010 * Chromosomes and Inheritance * G. Podgorski, Biol 1010 * Chromosomes and Inheritance * G. Podgorski, Biol 1010 * Chromosomes and Inheritance * G. Podgorski, Biol 1010 * Chromosomes and Inheritance * G. Podgorski, Biol 1010 * Chromosomes and Inheritance * G. Podgorski, Biol 1010 * Chromosomes and Inheritance * G. Podgorski, Biol 1010 * Chromosomes and Inheritance * G. Podgorski, Biol 1010 * 唐氏综合征的产前筛查 Prenatal Screening for Down’s Syndrome 唐氏综合征 唐氏综合征（Down’s Syndrome， DS） 　21三体综合征/ 先天愚型 　足月新生儿最常见的染色体疾病，发病率1/750。 临床特征：先天性智力障碍、特殊面容、精神体格发育迟滞，并伴有其他严重的多发畸形。 至今没有根治方法 歷史回顧 J.L.H. Langdon-Down (1828-1896) 他觀察了許多病人並把觀察的特徵寫下 The face is flat and broad ….. The nose is small. The skin has a slight dirty yellowish texture and is deficient in elasticity………………… 1866 1959 that Lejeune and colleagues extra chromosome 21 which was the underlying abnormality in Downs syndrome 唐氏综合征的发现 1866年 英国Langdone Down首先描述了该病的临床表现 1959年 法国Lejeune证实此病是由于多了一个小的“G组染色体” 1966年 Steele Breg证实多出来的是21号常染色体 Trisomy 21 Trisomy 21: 47,XX,+21 three separate copies of chromosome 21 21三体形成原因1、精子或卵子形成过程中21号染色体不分离， 90%由卵子的21号染色体不分离引起2、受精卵卵裂过程中21号染色体不分离（嵌合 体出现）3、双亲的平衡易位? Three different patterns of chromosomes can cause Down syndrome 95% people have three separate copies of chromosome 21 - trisomy 21 4% have the extra copy of chromosome 21 because of a Robertsonian translocation 1% have mosaicism with normal and trisomy 21 cell lines (and usually have much milder features because of the presence of the normal cells); - occurs postzygotically Non-disjunction Non-disjunction Clinical Features Head and neck Brachycephaly Up-slanting palpebral fissures Epicanthal folds Brushfield spots Flat nasal bridge Folded or dysplastic ears Open mouth Protruding tongue Short neck Excessive skin at the nape of neck Extremities Short broad hands Short fifth finger Incur