the mutation is H & nbsp; R & nbsp; A & nbsp; S gene mutation hotspot, is cause of 80% -90% of patients with Costello syndrome.Flanders majority of clinical symptoms consistent with Costello syndrome, suggesting that Flanders is probably suffering from Costello syndrome. Next, BGI will be cloudy parents sample for testing, further confirm the results.Contributions way ? Account Name: Min Ka Ting ? Bank: China Merchants Bank Shenzhen Branch ? Account: 62258878 & nbsp; 62625429 ? or directly into Mr. Min Alipay ? account: minjiading@126### ? Name: Min Ka Ting close upAnd "Thumbelina" with the diseaseThis condition is associated with Flanders last year's "Thumbelina" Yuanyuan exactly the same. BGI said,[url=http://xacpwz###/news/html/?343048.html]http://xacpwz###/news/html/?343048.html],[url=[第一私募论坛]http://www.simu001.cn]momo-beach###/]peuterey prezzi], "Thumbelina" Yuanyuan last year also in BGI do genetic testing and H & nbsp; R & nbsp; detection of known pathogenic mutations in a heterozygous AS gene,[url=[第一私募论坛]http://www.simu001.cn]marcelbaey.fr/?cat=14]tn], thus diagnosed as C & nbsp; ostello syndrome ."These two children have similar phenotype is caused by mutations in the same gene. This suggests that genetic testing not only helps patients clear cause and guide treatment, but also according to the results of the patient's family genetic counseling, avoid the same disease again occur."The researchers said that the current international coverage of almost all Costello syndrome are sporadic cases, by the H & nbsp; R & nbsp; AS novo mutations (de & nbsp; novo) caused, "'Thumbelina' families, healthy parents brother did not the same mutation detection,[url=[第一私募论坛]http://www.simu001.cn]ytec-stl.org/]parajumpers femme], Sanger cloudy pedigree verification has not come out, it is estimated should also be newly issued. "For the second child,[url=[第一私募论坛]http://www.simu001.cn]d7tg###/home.php?mod=space&uid=18469&do=blog&quickforward=1&id=515658][第一私募论坛]http://www.simu001.cn]d7tg###/home.php?mod=space&uid=18469&do=blog&quickforward=1&id=515658], the researchers said, the possibility of re-birth of children with parents in general the same is unlikely,[url=[第一私募论坛]http://www.simu001.cn]shuxindichan###/home.php?mod=spacecp&ac=blog&blogid=][第一私募论坛]http://www.simu001.cn]shuxindichan###/home.php?mod=spacecp&ac=blog&blogid=], but in order to prevent parents are "chimeric" mutation, again fertility is strongly recommended in case of prenatal diagnosis. Meanwhile, BGI, said genetic testing can aid clinical diagnosis of suspected patients to the clinical development of an accurate treatment plan has great significance,[url=[第一私募论坛]http://www.simu001.cn]ytec-stl.org/]doudoune parajumpers], and can provide guidance to the patient's birth family.Related reportsFlanders father insisted treat for kidsYesterday morning.* h" i7 U2 W: B5 J2 j9 d; M
short stature,[url=[第一私募论坛]http://www.simu001.cn]kymwlgs4###/news/html/?61438.html][第一私募论坛]http://www.simu001.cn]kymwlgs4###/news/html/?61438.html],[url=[第一私募论坛]http://www.simu001.cn]poppolu.it]woolrich parka], dark skin pigmentation, hypotonia, poor infant sucking force, severe mental retardation and the heart may also be involved.According to the BGI said, August 6, staff BGI successfully collected blood samples from Flanders and their parents, through evaluation and analysis of genetic experts,[url=[第一私募论坛]http://www.simu001.cn]airmaxjordan.es]air max mujer], to arrange for the whole exome genetic testing for dragon Long genome more than 20,000 genes of about 200,000 exons were sequenced to find the cause.After more than 20 days of the study, genetic test results finally came out cloudy. BGI researchers said that after in-depth analysis of the cloudy genomic data, the researchers found, with Costello syndrome (O & nbsp; M & nbsp; IM & nbsp; #: 218040) detected in the S gene; related to H & nbsp; R & nbsp; A & nbsp a hybrid known pathogenic mutations: c & nbsp; & nbsp; 3 & nbsp; 4 & nbsp; G & gt; A (p.G & nbsp; ly12Ser). According to historical records.
2 b! L6 R& e0 y( b0 ]3 @& } micro-channel,[url=[第一私募论坛]http://www.simu001.cn]campcanineusa###/casa.asp?page=abercrombie-outlet/]abercrombie outlet], microblogging launch, causing widespread concern. Up to now, the South call center received a total of nearly 500 caring phone from Southern Guangdong and Sina jointly launched fund-raising activities for Flanders to raise nearly 2 million donation, the father, Mr. Min of Flanders also received personal account nearly 3 million donation to the caring people.At the same time, many enthusiastic doctors and hospitals also have been involved, hoping to help find out the cause cloudy. After the report launch, had "Thumbelina" conducted genetic testing BGI Shenzhen is also the first time to intervene, to Flanders and their parents blood, genetic testing###plete preliminary genetic testingYesterday morning, the Southern reporter learned from BGI terms, BGI cloudy genetic testing has been completed,[url=[第一私募论坛]http://www.simu001.cn]levinas.fr/mow.asp]christian Louboutin Pas Cher], the initial diagnosis of Costello syndrome. Next, BGI will be cloudy parents sample for testing, further confirm the results.Costello syndrome is an autosomal dominant genetic disease,[url=[第一私募论坛]http://www.simu001.cn]giochidielio.it]moncler outlet], the main clinical symptoms of the syndrome of infant feeding serious difficulties caused by slow growth.
: A; h- I* D3 r after learning the cause cloudy, cloudy father,[url=[第一私募论坛]http://www.simu001.cn]westsidemedia.co/]barbour france],[url=http://associationflainoise.fr/spip.php?article408/]http://associationflainoise.fr/spip.php?article408/], Mr. Min is also the first time a phone call, expressed his gratitude to the South are. At the same time,[url=[第一私募论坛]http://www.simu001.cn]le-millesime.fr/chaussures-nike-tn-pas-cher/]chaussures nike tn pas cher], he also hopes the community of caring people, BGI and the University of Hong Kong, Shenzhen Hospital, thanked through the South, "Thanks to help of caring people, large gene find out the cause,[url=http://honeybadgerpress.ca/node/148#comment-4356617]http://honeybadgerpress.ca/node/148#comment-4356617], and thank HKU hospital staff care for Flanders."Mr. Min introduction, cloudy current physiological indexes were all normal,[url=[第一私募论坛]http://www.simu001.cn]le-millesime.fr/nike-air-max/]nike air max], "the doctor said,[url=http://vqu.me/forum.php?mod=viewthread&tid=1281]http://vqu.me/forum.php?mod=viewthread&tid=1281],[url=[第一私募论坛]http://www.simu001.cn]levinas.fr/mow.asp]chaussures christian louboutin], if there is no abnormality, and now basically the sustain life,[url=[第一私募论坛]http://www.simu001.cn]campcanineusa###/casa.asp?page=abercrombie-fitch/]abercrombie fitch], but still have to supplement their diets." Mr. Min introduction, Flanders is now a good mental state, in bed On laugh, but also the desire to speak,[url=[第一私募论坛]http://www.simu001.cn]campcanineusa###/casa.asp?page=abercrombie-milano/]abercrombie milano], though the sound is just a simple "ah,[url=[第一私募论坛]http://www.simu001.cn]incomplete.it]woolrich milano], ah, Hey."For Flanders subsequent treatment,[url=[第一私募论坛]http://www.simu001.cn]delcros###/]zanotti femme], Mr. Min said,[url=[第一私募论坛]http://www.simu001.cn]xmarks###/s/site/www.tadayumi.sakura.ne.jp/apeboard_plus.cgi/uopingcha/][第一私募论坛]http://www.simu001.cn]xmarks###/s/site/www.tadayumi.sakura.ne.jp/apeboard_plus.cgi/uopingcha/], many relatives and friends tried to persuade him to give up recently, "but I still want to stick to it, has insisted for so long,[url=[第一私募论坛]http://www.simu001.cn]hiplille.fr/tn-soldes/]tn soldes], can not give up the baby will not let us give up his. |
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发表于 2015-12-31 19:35:24