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published in(发表于) 2016/3/16 6:12:40
Only one case of this: o 5 year old girl lost 51 genes in the body,

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Only one case of this: o 5 year old girl lost 51 gene-gene, chromosome-IT information

Australia Melbourne have a 5 year old little girl, her body on the seventh chromosome 51 gene is missing, as the world's only recorded patients, since there are no other cases for reference, this disease has not yet been named.

According to reports, who lives in Melbourne's Ivy on the seventh chromosome missing 51 genes and genetic syndromes. Her mother, Pearl said, little Ivy was diagnosed at 16 months old, but there is no cure, because no one else has had the same disease around the world. "Even the search engine Google cannot tell you more about the information, nothing on the Internet. "Perle said.

It is reported that Ivy gene defect causes her spine in normal growth will eventually lead to embolization of spinal cord, resulting in delayed development and delayed language development.

According to doctors at the Royal children's Hospital, Ivy is a frequent visitor to the hospital, she has had 6 separate operation, including two in spinal surgery.

Reports that Ivy and her family will be on the 19th to participate in "unknown disease in children" (Undiagnosed Children's Awareness Day), I hope to arouse public awareness of the importance of unknown diseases of children.


全世界仅此一例:澳5岁女孩体内遗失51个基因 - 基因,染色体 - IT资讯

澳大利亚墨尔本有一位年仅5岁的小女孩,她体内第七条染色体上缺少51个基因,成为全世界记录在案的唯一患者,由于没有其他案例可供参考,这种病至今还没有被命名。

据报道,家住墨尔本的艾薇第七条染色体上缺少51个基因,因而患有遗传综合征。她的母亲珀尔表示,小艾薇在16个月大的时候就被确诊,但是没有任何治疗办法,因为全世界没有其他人有相同的疾病。“就连搜索引擎谷歌也不能告诉你更多关于这种病的信息,互联网上什么也没有。”珀尔说。

据悉,艾薇的基因缺陷会导致她的脊柱不能正常生长,最后会导致脊髓栓塞,从而延缓发育和推迟语言功能的发展。

据皇家儿童医院的医生介绍,艾薇是医院的常客,她已经做了6次单独手术,其中两次是在脊柱动手术。

报道称,艾薇和她的家人将会在19日参加“儿童未知疾病日”(Undiagnosed Children’s Awareness Day),希望可以唤起公众对儿童未知疾病重视的意识。






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