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孕检检查出染色体异常怎么办?染色体异常是由什么导致的?

发布日期:2024-06-19 09:56:37编辑:秩名


染色体异常是怎么回事

惊!聪明爸妈居然会生出智障孩儿?原来是染色体异常惹的祸!相信大家在日常生活中都会或多或少见过一些智力迟钝的孩子,他们反应迟钝或引不出进食困难,患儿智力及精神发育明显异常。但是他们的爸妈都是正常人啊?为什么会这样?医生给出的结果是染色体异常。那么染色体异常究竟是怎么回事呢?妈网百科马上为大家来科普一下这方面的知识。
 
染色体是基因的载体,染色体病即染色体异常,故而导致基因表达异常机体发育异常。染色体畸变的发病机制不明,可能由于细胞分裂后期染色体发生不分离或染色体在体内外各种因素影响下发生断裂和重新连接所致。
 
染色体异常的原因有很多,人们所处的环境,吃的、用的都会影响到染色体的异变,还有就是从父或母传递而来,即由遗传而来。另外自身免疫性疾病似乎在染色体不分离中起一定作用,如甲状腺原发性自身免疫抗体增高与家族性染色体异常之间有密切相关性。
 
所以说,为了让自己后代不受到染色体异常的影响,及早了解关于这方面的知识点非常重要。
 

染色体异常的原因

万万没想到,天然辐射也会导致染色体异常!说到染色体异常这个词语,可能很多人都不是很熟悉,其实这样的病症并不罕见,人群中每五百人就可能有一人是染色体异常,而且它的发生没有性别的差异,男性和女性均可发生。那么为什么会有染色体异常呢?着急,接下来妈网百科就来给大家扒一扒染色体异常的原因。
 
1、物理因素:人类所处的辐射环境,包括天然辐射和人工辐射。长期暴露辐射环境、辐射X射线照射会导致染色体异常。
 
2、化学因素:人们在日常生活中接触到各种各样的化学物质,有的是天然产物,有的是人工合成,它们会通过饮食、呼吸或皮肤接触等途径进入人体,而引起染色体畸变。
 
3、生物因素:当以病毒处理培养中的细胞时,往往会引起多种类型的染色体畸变,包括断裂、粉碎化和互换等。
 
4、母龄效应:胎儿在6—7个月龄时,所有卵原细胞已全部发展为初级卵母细胞,并从第一次减数分裂前期进入核网期,此时染色体再次松散舒展,宛如同前胞核,一直维持到青春期排卵之前。随着母龄的增长,在母体内外许多因素的影响下,卵子也可能发生许多衰老变化,影响成熟分裂中同对染色体间的相互关系和分裂后期的行动,促成了染色体间的不分离。
 
5、遗传因素:父或母传递而来,即由遗传而来。
 
6、自身免疫性疾病:自身免疫性疾病似乎在染色体不分离中起一定作用,如甲状腺原发性自身免疫抗体增高与家族性染色体异常之间有密切相关性。
 

染色体异常的症状

染色体是我们遗传基因的重要载体,粑粑麻麻的遗传物质就是通过染色体遗传给宝宝的,所以说如果染色体异常,那么宝宝的健康就得不到保障了,还真的是不能掉以轻心。那么在日常生活中怎么知道自己的孩子有没有染色体异常呢?妈网百科马上为大家来讲解一下染色体异常的症状,想要一探究竟的你岂能错过下面的内容呢?
 
1、Down综合征:患儿出生时即有某些病理特征,随年龄增长症状变得明显,颅面部表现为圆头,低鼻梁,上颌骨发育不全可致面部扁平,嘴呈微张状,舌体肥大有深裂,常伸出口外,故称伸舌样痴呆,内眦赘皮常遮盖部分内眦,患者睑裂可轻微向上,向外倾斜,形成蒙古样面容,耳朵位置低,呈卵圆形,耳垂小,可见虹膜灰-白色斑点,即布鲁什菲尔德点,囟门明显,闭合晚。
 
2、13三体综合征:患儿表现为小头,前额凸出,小眼,虹膜缺损,角膜浑浊,嗅觉缺失,耳位低,唇腭裂,毛细血管瘤,多指(趾)畸形,手指弯曲,足跟后凸,右位心,脐疝,听力缺陷,肌张力过高及严重精神发育迟滞等,患儿多死于儿童早期。
 
3、猫叫综合征:患儿生后数周至数月出现小猫叫样哭声,严重精神发育迟滞,眼间距过远,内眦赘皮折叠(epicanthalfolds),短头畸形,满月脸,反先天愚型样睑裂歪曲,小颌,肌张力减退和斜视等。
 
4、Turner综合征:患者身材矮小,颈部有蹼,脸呈三角形,小下颏,乳头间距宽,指(趾)弯曲,肘外翻和指甲发育不全,可伴五官距离过远,内眦赘皮折叠,可有性发育迟缓及中度精神发育迟滞等。
 
5、Prader-Willi及Angelman综合征:患儿表现为肌张力降低,腱反射消失,身材矮小,面容变形,生殖器明显发育障碍,出生时可有关节弯曲等,1年后出现明显精神发育迟滞或智力低下(hypomentia),由于过度进食变得肥胖。
 

染色体异常的危害

秒藏!染色体异常的三大危害知多少!或许大家会觉得染色体异常离自己很遥远,病并没有太重视,其实这样的病症并不罕见,人群中每五百人就可能有一人是染色体异常,而且危害性是非常高的呢。不信,那就赶紧过来围观吧。
 
染色体异常最坏的影响就是让出生的宝宝天生就带有缺陷了,作为父母的哪个不心疼自己的宝贝呢?染色体异常给孩子带来的危害,详细请看下面:
 
危害一:唐氏症候群
 
唐氏症候群是染色体异常疾病的一种。其特征包括两眼分得较开、外眼角往上扬、内眼角的皱褶较厚、嘴巴常开且舌头伸出来、手掌有横断掌面的掌纹、双手的小指头向内弯曲而且外表看来只有两节。
 
危害二:爱德华氏症
 
第18对染色体若有3个,称为“爱德华氏症”。外观上最具特征的是手部:食指会叠在中指上,小指叠在无名指上。颜面部与心脏、肾脏的异常自不在话下。这些婴儿出生时体重多半不足,90%的个案在周岁内死亡,活过周岁的也多半是重度智障,所以一旦诊断确定,便不做任何积极的治疗。
 
危害三:巴陶氏症
 
当第13对染色体出现3个,称为“巴陶氏症”。这些婴儿有很严重的异常,包括唇裂与颚裂、前脑发育不良、先天性心脏病等,往往活不过周岁,即使活过周岁,也是重度智障,因此多半不考虑积极的治疗。
 
虽然说如果出现了染色体异常是人力无法改变和治愈的,但我们却可以通过人的社会生活习惯、营养以及环境毒素等措施,大大降低降低染色体异常风险。
 

染色体异常应该怎么治疗

染色体异常怎么破?尽早治疗是关键!染色体异常是一种不分性别的病症,男女都有可能会患有。染色体异常如果发生在男性身上,会导致男性出现少精无精的情况,那发生女性身上就会影响胎儿的稳定,造成流产,因此男女朋友都不容忽视。那么染色体异常可以怎么治疗呢?且听妈网百科的建议。
 
染色体异常的治愈是很困难的,只能防微杜渐,提前预防。因此,推行婚检、遗传咨询、染色体检测、产前诊断等预防方法是很必要的,如果有生出患儿的危险,可选择性人工流产等措施,防止患儿出生。目前治疗以症状治疗及器官畸形矫正为主,基因治疗、细胞治疗、替代治疗也正发展中。但是染色体异常治疗困难,疗效不满意,导致的先天性智能障碍的治疗,也尚无有效药物,可尝试中药或康复训练。
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