资源描述：
《turner综合征的临床实验综合研究》由会员上传分享，免费在线阅读，更多相关内容在教育资源-天天文库。
1、Turner综合征的临床实验综合研究?16?中国优生与遗传杂志2006年第14卷第3期TheClinicalAnalysisofTurnerSyndromeJIANGJing.,WANGWel,FUMan—fen,CHENFeng—shen,WANGDe—fen(DepartmenofPediatrics,RuijH.spia1,shanghaise.ndMdica1unV.rsy,shanghai20o02)Abstract:Objective:Toresearchchangetheterminalheight,thelevelof
2、growthhormone,sexualdevelopmentandrecordofformalschoolinginTurnersyndrome(TS).Methods:Karyotyping,growthhormoneprovocationtests,follow—upobservationsofschoolingrecordandsexualdevelopmentwerestudied.Results:239"ISwerekaryotypedin4groups:1,45,X,95;II,mosaicism.64;III,with
3、various,aberrationsofstructureofXchromosome,74;IV,withYchromosome,6.Terminalheightswere139.24-8.3cm,68growthhormonetests,Growthhormonedeficiency18,partofdeficiency34andnormal16.Inthefollow—upsurveyof45TS,recordofformalschoolingweremainlyjuniormiddleschool,skillschooland
4、specialschoo1.19hadvariousofdegreesexualdevel—opmentand26hadno.Conclusion:TheterminalheishtsofTSweremarkedlowerthannormal,Growthhormonewasdeficiency,learn—ingabilitydecline,hypoplasiaofsexand.Keywords:TS;Terminalheight;Growthhormone;Diploma;SexualdevelopmentTurnersyndro
5、me(TS)isarelativelycommonchromosomedisorder,causedbycompleteorpartialXmonosomyinsomeorallcells.TSaffectsapproximately1in2000female1ivebirths,althoughithasbeenestimatedthatonlyabout1%of45.Xfetu—sessurvivetotermandthatasmanyas10%ofspontaneousmis—carriageshavea45.Xkaryotyp
6、e.Twentypercentofcasesarediagnosedatbirthduetotypicalclinicalfeaturesorsomaticab-normalitieswhichare~t'tenrelatedto45.Xmonosomy.Thediag-nosisoftheremainingpatientsismadeduringchildhood(usuallyduetogrowthretardation)orlater,duetolackofpubertaldevel—opment.From1981to2003,
7、12ourlaboratoryfound15varietykindsofchromosomekaryotypesin239"IS.Amongthem195ca-seshaveclinicaldetails.ThispaperanalysedtheclinicofTSandtheirlaboratorydata.SUBJECTSANDMETHoDS1.SubjectsRangedinagefrom2daysto28years,.11subjectshadclin-icalevidence(shortstature(height<2
8、s)andprimaryamenor—rhea(age≥18yearsandhadnomensis))supposingthediag-nosisofTS,andallstatedthattheyhadbeenkaryo
