三体综合症-课件

单击此处编辑母版标题样式,单击此处编辑母版文本样式,第二级,第三级,第四级,第五级,*,*,*,第八章第二节,21-三体综合症,第八章第二节21-三体综合症,1,21-三体综合征,目的要求,了解本病的细胞遗传学与遗传学咨询,(To understand cytogenetics and genetic counselling),掌握本病的临床特征及诊断,(To master symptoms ,signs and diagnosis),了解本病的鉴别诊断,(To understand differential diagnosis),21-三体综合征目的要求 了解本病的细胞遗传学与遗传学,2,21-三体综合征,前言,我国每年大约有26,600个唐氏综合征患儿出生，平均,每20分钟就有1例出生,，估计我国现有病人60万以上,(,26,600 town syndromes occur in one year,one is born every 20,minutes,above 600,0000 in our country. ),发病率约占新生儿的,1/750,，此征是引起先天智力障碍最常见的染色体病,(,Incidence of 1 in 750 newborns,it is the most common chromosome,disease causing congenital Intelligence disturbance),本病与单基因遗传病的一个重要区别就是，它是偶发的，每个,孕妇都有生患儿的可能,(Different with single gene disease,it is,accidental and every,pregnant woman has a chance to conceive this fetus.),我国每出生一例唐氏综合征患儿大约造成25万元人民,币的社会经济负担。(,250,000 RMB is needed to bring up one patient),21-三体综合征前言 我国每年大约有26,600个唐氏综,3,21-三体综合征,前言,21-三体综合征前言,4,21-三体综合征,临床表现,特殊面容 characteristic facies,智能低下 mental disability,21-三体综合征临床表现特殊面容 characteris,5,什么是智能低下？,What is mental disability?,答：指大脑发育障碍引起的综合性功能不全，包括认知、记忆、理解、运动、言语、综合分析、思维、想象。(,Answer: Malfunction caused by developmental disorder of cerebrum includes cognition,memory, understanding, motion,words, comprehensive analysis, thought and imagination,.),小儿智能低下指18岁以下脑发育年龄的智力明显低于同年龄儿童平均水平，伴社会适应智力缺陷。即智商（IQ）低于同龄儿均值（100）减2个SD，100-215亦即70。18岁以后智力衰退称痴呆。（廖清奎临床儿科学P447,）(,U,nder age 18,IQM-2SD. After age 18,intelligence diminution is called dementia. ),什么是智能低下？,6,21-三体综合征,临床表现symptoms and signs,特殊面容 characteristic facies,智能低下 intelligence disability,21-三体综合征临床表现特殊面容 characterist,7,21-三体综合征,临床表现symptoms and signs,发育迟缓 developmental retardation,四肢短 short extremities,韧带松弛 laxity of ligament,21-三体综合征临床表现 发育迟缓 dev,8,21-三体综合征,症状体征sympyoms and signs,皮纹特征,dermatoglyph characteristics,21-三体综合征症状体征皮纹特征 dermatoglyp,9,21-三体综合征,症状体征sympyoms and signs,皮纹特征,dermatoglyph characteristics,21-三体综合征症状体征皮纹特征 dermatoglyp,10,21-三体综合征,21-trisomy syndrome,临床表现,皮纹特征,dermatoglyph,characteristics,21-三体综合征 21-trisomy syndrome,11,21-三体综合征,21-trisomy syndrome,临床表现,皮纹特征,dermatoglyph,characteristics,21-三体综合征 21-trisomy syndrome,12,21-三体综合征,21-trisomy syndrome,诊断与鉴别诊断,诊断,核型分析,karyotype analysis,鉴别诊断,differential diagnosis,先天性甲状腺功能减低症,congenital hypothyroidism,21-三体综合征 21-trisomy syndrome诊,13,三体综合症-课件,14,本节讲完,本节讲完,15,