1、第八章第二节儿科学教研室 了解本病的细胞遗传学与遗传学咨询了解本病的细胞遗传学与遗传学咨询 (To understand(To understand cytogeneticscytogenetics and genetic and genetic counsellingcounselling)掌握本病的临床特征及诊断掌握本病的临床特征及诊断 (To master symptoms,signs and diagnosis)(To master symptoms,signs and diagnosis)了解本病的鉴别诊断了解本病的鉴别诊断 (To understand differential d
2、iagnosis)(To understand differential diagnosis)我国每年大约有我国每年大约有26,60026,600个唐氏综合征患儿出生，平个唐氏综合征患儿出生，平均均每每2020分钟就有分钟就有1 1例出生例出生，估计我国现有病人，估计我国现有病人6060万以万以上上(26,600 town syndromes occur in one year,one is born every 20(26,600 town syndromes occur in one year,one is born every 20 minutes,above 600,0000 in o
3、ur country.)minutes,above 600,0000 in our country.)发病率约占新生儿的发病率约占新生儿的1/7501/750，此征是引起先天智力，此征是引起先天智力障碍最常见的染色体病障碍最常见的染色体病(Incidence of 1 in 750 newborns,it is Incidence of 1 in 750 newborns,it is the most common chromosome disease causing congenital Intelligence the most common chromosome disease caus
4、ing congenital Intelligence disturbance)disturbance)本病与单基因遗传病的一个重要区别就是，它是偶发的，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每个孕妇都有生患儿的可能(Different with single gene disease,it(Different with single gene disease,it is accidental and every is accidental and every pregnant woman has a chance to conceive this fetu
5、s.)我国每出生一例唐氏综合征患儿大约造成我国每出生一例唐氏综合征患儿大约造成2525万元人万元人民币的社会经济负担。民币的社会经济负担。(250,000 RMB is needed to bring up one 250,000 RMB is needed to bring up one patient)patient)细胞遗传学特征细胞遗传学特征 号染色体呈三体型号染色体呈三体型 原因生殖细胞在减数分裂形成配子时，或原因生殖细胞在减数分裂形成配子时，或受精卵在有丝分列时号染色体发生不受精卵在有丝分列时号染色体发生不分离，使胚胎细胞内存在一条额外的分离，使胚胎细胞内存在一条额外的号染色体号染
6、色体 Answer:Malfunction caused by developmental disorder of cerebrum includes cognition,memory,understanding,motion,words,comprehensive analysis,thought and imagination.)）(Under age 18,IQM-2SD.After age 18,intelligence diminution is called dementia.)dermatoglyph characteristicsdermatoglyph characteris
7、tics dermatoglyph characteristics 先心病先心病 消化道畸型消化道畸型 先天性甲状腺功能减低症先天性甲状腺功能减低症 白血病白血病 其他其他 标准型，标准型，XY（XX）易位型易位型D/G易位易位:46，XY（XX）-14+t（14q21q）45，XY（XX）-14-21+t（14q21q）G/G易位易位:46，XY（XX）-21+t（21q21q）46，XY（XX）-22+t（21q21q）嵌合体型嵌合体型 46,XY（XX）/47,XY（XX）,+21 karyotype analysis differential diagnosiscongenital hypothyroidismantenatal diagnosis and to terminate pregnancy.）Different with Different with single gene disease,it is single gene disease,it is accidental and every accidental and every pregnant woman has a chance to conceive this fetus.So every pregnant woman should have a risk assessment）
