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一例猫眼综合征病征病道及征病学分征病遗传例报例报道及遗传学分学分

2019年 第03月 03 | 1111;[]1];];;[[2];;];1[1]];[[11];[1] 1茂名市1茂名市人民医院产前诊断中心,广名5东茂名52茂中心00,广东茂25名50025002茂2茂500 2茂名市茂名科,50医院科,人民医院50茂名药剂茂名茂名科,50广东茂名525000

摘 要:目的:对一例猫眼目的:对综合征患一例猫眼传学分析,以明确综合征患儿进行遗传学分析。方法 ,以明确,以明确该综合征该综合征染色体微染色体微的分子遗omal染色体微 显带染。方法 MicAnalomos传学特征。方法 ray 阵列技术)对一例采用 G)对一例 显带染(Chr色体核型患儿染色分析、 染色体微阵列技术分析。 征患儿进,CMA 体核型(Chr+, +体 22(Chr Micomosroar患儿染色omal行遗传学 Mic+, +贝数为 CMA roar行遗传学1q11,CMAroarray ,1qh1.1q11.2)对一例Anal+, +征患儿进ysis,CMA4,在 为 3,)对一例猫眼综合体 22征患儿进1q11A 等基 号染色行遗传学贝数为 760K微重复,22q13 发生分析。 L17R结果 该切相关,Kb 的拷贝数约.21 患儿染色 体核型11.2mar。为 47一段长 复区域密, XX,1qh嵌合性的+, +此重复区重复,拷脏异常,贝数为 为肛门闭mar。L17R1q11为 3,CMA 显示染色体 22q11.主要表现主要表现1q11.21 处发生一段长 1760Kb 的微重复,拷贝数为 4,在 22q11.1q一段长 11.2异常,肾3 发生一段长 8752Kb 的域与 C嵌合性的微重复,拷贝数约为 3,此重复区复区域密域与 CECR1A 等基,PEX26,IL17RA 等基因密切相关。结论 该猫眼 综合征与 22 号染色体的微重育迟缓等复区域密切相关,主要表现为肛门闭锁,心脏育迟缓等异常,肾脏异常,耳部异常,语言发育迟缓等

【分 类】 【医药、卫生】 > 临床医学 > 护理学 > 护理学基础科学
【关键词】 染色体微阵列分析 先天性心脏病 肛门闭锁 猫眼综合征
【出 处】 2019年 第03月 03 367-368页 共2页
【收 录】 中文科技期刊数据库

【参考文献】
[1][1]i,MTsaTsa.,Ti,M.,etali,Mi,M.,eype.,Ttal.,TypedroAordHyArcBInterrupruptedciaAorciaticdroArccepa1.handHyhModrocephalusAssondrciasaited37MegieonhMoomeegicisticmofalReonndrwits&NhMoatosaicismofeSyiat37M.56alRdiaalRdCaloga1.alR37MbAmdiaecuiccpliactfiedCaeoneriena015zat277tEy(4)eSynetegiactoraogendr,Pr2]ComeCrisiscytsmfticalR(4)egiromon.e22atePediatricarys&Nary.56.56taleonthc(4)atoenaociactupenethenasslogy,2thc0159.[andelohorocirnu.56som(4):p.net277-27ficary9.[sis:Ac2]Chen,20,et,C.:p.malomoomeuit,etal.,Prromenamal3]Mhortaliewedfdiaiccgnosisase]Tzandmolecuteyiesyesomeynd,C.larcyt,C.at-ogenunthcriverineticcewo8.[harithndract-38erizatfthomellsAClioniestalofmrepofCosaienicismforasmallsupekerrnuficedrG.,86-merary201mar527kerchrhoromopitesysomyes.,Aedeedeederiv.Cateredf12.Sev.,AromereeSyepochromosome22elintaassocil.,cts.,Aeneateiesdwi61-Psyary527thcnadG.,86-:AcfthateyesienetitabetiSmayndrome.G]ShkerndrSma,2086-enende,2013.527(1)a:rmontalnadedrcywago:Acetirepak,:p.al.:AcT.,orD013384edaticewo-388.[mot3]M[6],CaolT3.[hel,Ca3.5r20romelo,C.etagofgof,etal.nta01386-Psyene3.[.sSme2ne,,Catey.,Ausuereesysomndrome.20andromgroaryrFe[6]G.,hr,14294(Hom,T.rnuwtheraePrhormon191edekernun-28fic392iencywetaheledaaSeith039pituitaryanos,2orDrkomalies:AcrepaserepaSeortR1,ons94(61-andectmar94(revctsoloiewPexofthelseRrom.sSitetiotiodisratl.,ureynd.20ciame2.Gene,23-may201eli3.529(tioePr189Cat1):p.1039omoeriomo86-189armersIns.[4(3)]Tzmchiveetis,Mfun.,eLie%of8]Rrom4.[talp.1ham.,Agennunerausufpenin,etasemebtabt,2ersteralcomeome.Aur654.[keraseofCat-tomEyesyndroPEXxtrmepy,2henentotypeandes,2xtrmos039agos.Aortenecaseso11]nadalmCECatuespedryeSi,Mal.-28e.Creteratomaseuggme2kerpeca:reviewo.CoersX264.[theftheliarkterp.2atuinvonsre.esetop23-ofZGenateBir%of.sS07.thDefectsResfpeAClinMolTinvera,S.191tolesiofsici,20sso12.olo]ShHomere94(chrTanak,,Th:p.yinak,rox7):p.561-pritali,Mtrumeb61-0392016.[atE5]Jmeredrazaaszr20GenPEXatuak,5.[.20G.,isomebetal.,14(Sevtiodis52(.20biofpeerePsy.[7chomotorDr20yint,2):phroelaiazyin-EymayaSever142,Anhr,ero.CawegePresentatio201.[7nof.20Cator,thF201-EyeSyostostCasstandr.20itreneifiatuomeate.Ca[12277seRT.,10]eportsinGenellsr20ticX26s,2sde015.20al.15:p.1esp-4.CEC[6]eri-99ne,Liehr,T.,SmallsupernumeraryMCdmarkeredmchromosomeda.64tabyndal.aseazarko.sSMCdtruenteri,T.roxtervedfromalmchPexromosome2ark2.2013ent.[7peandtMol]Sharm3.[a,D.,etalder.,CateR1,2):yesyndrome.CaseRepateomeostcasorts,2014.2014(maypecerm191):p.bcr20r20ifi142agyark039bcr23-bcr201,An4203923.[8]Rpriiazate.,ei,M.A.,eticial..76peaefoert07.,TheHuwitmanHomoloinpprigofciaInsect-DerivedGrowthFactnthofZor,mebCECR1,,AlIsaCandidX26ate,etGennumefoin,rFeatures,S.ofCatEyeSleryndrome.Genomics,2000.64eso.13(3):p.277-285.[aloeroyid9]Nazarko,T.Y.,PexmJHophagyisrespngsonsiblefo%ofr65the%ofcasesofperoxisomebiogenesisdisordersofZ.Aundttophagertercy,2017.13(5):p.991ost-994.[ter10]Tanaka,A.,etal.,AnewlyidentifiedmutatiomerninthePEX26geneisassociatednthwitsorhamildertypealoofZellwegerspectrumdisoral.der.ColdSfunpringHarbMolCaseStnth07.ud,ivebio2018.[11]Weller,S.alo,etal.,AlternativespliciostngsuggestsextendedshafundsoctionofPEX26inperoxisomebiogenesis.AmJHaloumGenet,2005.76(6):p.987-1007..Ge[12]Hussein,S.Sinv.,etal.,Mitoticstabilityofsmallsupernumerarymntharkerchromosomesdependsontheirshapeandtelomeres-alongterminvitrostudy.Gene,2014.552(2):p.246-8.

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