唐氏综合症英文资料

唐氏综合症英文资料

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1、Downsyndrome,orDown'ssyndrome(primarilyintheUnitedKingdom),[1][2]trisomy21,ortrisomyG,isachromosomaldisordercausedbythepresenceofallorpartofanextra21stchromosome.ItisnamedafterJohnLangdonDown,theBritishphysicianwhodescribedthesyndromein1866.Thedisorde

2、rwasidentifiedasachromosome21trisomybyJérômeLejeunein1959.Theconditionischaracterizedbyacombinationofmajorandminordifferencesinstructure.OftenDownsyndromeisassociatedwithsomeimpairmentofcognitiveabilityandphysicalgrowth,andaparticularsetoffacialcharac

3、teristics.Downsyndromeinafetuscanbeidentifiedwithamniocentesisduringpregnancy,orinababyatbirth.IndividualswithDownsyndrometendtohavealowerthanaveragecognitiveability,oftenrangingfrommildtomoderatedevelopmentaldisabilities.Asmallnumberhaveseveretoprofo

4、undmentaldisability.TheincidenceofDownsyndromeisestimatedat1per800to1,000births,althoughitisstatisticallymuchmorecommonwitholdermothers.Otherfactorsmayalsoplayarole.ManyofthecommonphysicalfeaturesofDownsyndromemayalsoappearinpeoplewithastandardsetofch

5、romosomes,includingmicrogenia(anabnormallysmallchin)[3],anunusuallyroundface,macroglossia[4](protrudingoroversizedtongue),analmondshapetotheeyescausedbyanepicanthicfoldoftheeyelid,upslantingpalpebralfissures(theseparationbetweentheupperandlowereyelids

6、),shorterlimbs,asingletransversepalmarcrease(asingleinsteadofadoublecreaseacrossoneorbothpalms,alsocalledtheSimiancrease),poormuscletone,andalargerthannormalspacebetweenthebigandsecondtoes.HealthconcernsforindividualswithDownsyndromeincludeahigherrisk

7、forcongenitalheartdefects,gastroesophagealrefluxdisease,recurrentearinfections,obstructivesleepapnea,andthyroiddysfunctions.Earlychildhoodintervention,screeningforcommonproblems,medicaltreatmentwhereindicated,aconducivefamilyenvironment,andvocationalt

8、rainingcanimprovetheoveralldevelopmentofchildrenwithDownsyndrome.AlthoughsomeofthephysicalgeneticlimitationsofDownsyndromecannotbeovercome,educationandpropercarewillimprovequalityoflife.[5]CharacteristicsIndividualswithDownsyndromemayhavesomeo

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