女孩不会说话，走到哪里都大笑 The girl can't talk，Go to where all laugh

患上了罕见的“天使综合征”，专家提醒新生儿优生检查“三级预防”必不可少 Suffering from a rare“Angel syndrome”，Experts remind neonatal prenatal examination“The three prevention”essential

　　总爱大笑不止的孩子却是“天使综合征”患者，在昨天召开的第十四期国家孕前优生临床检验专题培训班上记者了解到，我国每年出生百万缺陷儿，约占每年出生人口总数的4%-6%。而南京军区南京总医院的一项同步调查显示，高强度电磁辐射、高温作业的人群更容易生出缺陷儿。专家提醒，针对孕前、孕期和新生儿期进行体检和实验室检查的“三级预防模式”必不可少，生育保健要提前。

Always love the child is laughing“Angel syndrome”patients，In the 14 countries held yesterday of healthy birth clinical inspection project training before childbirth on the reporter understands，Every year millions of defects in our country was born，Born every year accounts for about 4% of the population to 6%。Nanjing general hospital of nanjing military region and a synchronous survey，High strength electromagnetic radiation、The crowd of hot work more easily gives birth defects。Experts remind，For pregnant、Pregnancy and the neonatal period for medical examination and laboratory tests“The three prevention mode”essential，Reproductive health care to advance。

　　军区总院曾经收到过这样一例患儿妞妞，不论走到哪里都会咧着嘴大笑。但直到两岁多，妞妞的家人才发现了孩子不对劲。虽然妞妞会一直笑个不停，但随着年龄的增加，妞妞始终不会说话，走起路来也是一摇一摆的。尽管多次到外地就医，但依然查不出是什么原因。到了南京军区南京总医院生殖遗传中心检查才发现，妞妞患上的是罕见的“天使综合征”，是由于妞妞的妈妈在怀孕时出现染色体缺失的问题而导致的。而这种病的发病概率只有五万分之一。

Military area commands institute once received such children a girl，No matter where he went will grin laugh。But until two years，Niuniu home talents found the child is wrong。Although the girl will always keep smile，But with the increase of age，Niuniu always can't talk，Walking is also a shake a put。Although many specialists to go to a doctor，But still did not find out what is the reason。The nanjing military command in nanjing general hospital center for reproductive genetics found，Niuniu has are rare“Angel syndrome”，Is the girl in the pregnant mother because of the lack of problem occurs when the chromosomes in。And the onset of the disease rate is only one over fifty thousand。

　　南京军区南京总医院遗传室主任崔英霞告诉记者，妞妞出生时的体重就比正常孩子低，随着年龄的增长还出现了难喂养、不会说话、走路不稳的问题，同时喜欢不停地大笑。“孩子出现智力发育低下，生长发育落后的症状，通过核型分析技术、荧光原位杂交(FISH)技术、芯片技术进行分析，我们发现孩子患有‘天使综合征’，是因为母亲的15号染色体大片段缺失引起的。”经过专家的明确诊断后，妞妞的母亲再次妊娠，在孕24周时，抽取脐带血，经过产前诊断后生下了健康的宝宝。专家们随访发现，孩子现在的生长发育一切正常。

Nanjing general hospital of nanjing military region ministy cui YingXia genetic told reporters，Niuniu birth weight than normal child low，As the growth of the age also appeared difficult to feed、Can't talk、Walking instability problems，Also like kept laughing。“Children have mental development is low，Behind the growth and development of the symptoms，Through the karyotype analysis technique、Fluorescence in situ hybridization(fish)technology、Chip technology are analyzed，We found that children with‘Angel syndrome’，Because his mother of chromosome 15 large fraction of the lack of the cause。”By experts of the diagnosis，Girl's mother during pregnancy again，At 24 weeks in pregnant，Extraction cord blood，After prenatal diagnosis later down the healthy baby。Experts found follow-up，The growth and development of the children are now all normal。

　　崔英霞说，“天使综合征”又叫“快乐木偶综合征”，因为孩子会一直经常发笑，双手举高，挥舞，脚下不稳，痉挛，缺乏语言能力及智障而得名。“得了这种病的孩子缺少的是母亲染色体中的片段，通过最新的研究发现，通过活化激活父亲染色体中的片段，有望在一定程度上弥补缺少母亲染色体的缺陷。”专家提醒，出生缺陷产生的原因包括遗传、环境因素或是两者共同作用的结果。对于出生缺陷的预防，国家提出了三级预防模式，针对孕前、孕期和新生儿期进行体检和实验室检查，有效降低了缺陷儿的出生。(通讯员 高铭华 杨晨 记者 杨甜子)

Cui YingXia said，“Angel syndrome”And that“Happy puppet syndrome”，Because the child would have been often laugh，Hands for high，waved，Feet instability，spasm，Lack of language ability and the mentally disabled the name。“In this disease children lack is the mother of the chromosome segments，Through the latest study found，Through the activation activation of the chromosome father footage，To a certain extent is expected to make up for the defect of the lack of mother chromosomes。”Experts remind，The causes of birth defects including genetic、Environmental factors or both the result of joint action。For birth defects prevention，Country puts forward the three prevention mode，For pregnant、Pregnancy and the neonatal period for medical examination and laboratory tests，To reduce the birth defects。(Correspondent GaoMingHua Jody reporter Yang sweet son)