唐氏综合症英文资料

唐氏综合症英文资料

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时间:2018-07-19

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

2、fiedasachromosome21trisomybyJérômeLejeunein1959.Theconditionischaracterizedbyacombinationofmajorandminordifferencesinstructure.OftenDownsyndromeisassociatedwithsomeimpairmentofcognitiveabilityandphysicalgrowth,andaparticularsetoffacialcharacteristics.Downsyndro

3、meinafetuscanbeidentifiedwithamniocentesisduringpregnancy,orinababyatbirth.IndividualswithDownsyndrometendtohavealowerthanaveragecognitiveability,oftenrangingfrommildtomoderatedevelopmentaldisabilities.Asmallnumberhaveseveretoprofoundmentaldisability.Theinciden

4、ceofDownsyndromeisestimatedat1per800to1,000births,althoughitisstatisticallymuchmorecommonwitholdermothers.Otherfactorsmayalsoplayarole.ManyofthecommonphysicalfeaturesofDownsyndromemayalsoappearinpeoplewithastandardsetofchromosomes,includingmicrogenia(anabnormal

5、lysmallchin)[3],anunusuallyroundface,macroglossia[4](protrudingoroversizedtongue),analmondshapetotheeyescausedbyanepicanthicfoldoftheeyelid,upslantingpalpebralfissures(theseparationbetweentheupperandlowereyelids),shorterlimbs,asingletransversepalmarcrease(asing

6、leinsteadofadoublecreaseacrossoneorbothpalms,alsocalledtheSimiancrease),poormuscletone,andalargerthannormalspacebetweenthebigandsecondtoes.HealthconcernsforindividualswithDownsyndromeincludeahigherriskforcongenitalheartdefects,gastroesophagealrefluxdisease,recu

7、rrentearinfections,obstructivesleepapnea,andthyroiddysfunctions.Earlychildhoodintervention,screeningforcommonproblems,medicaltreatmentwhereindicated,aconducivefamilyenvironment,andvocationaltrainingcanimprovetheoveralldevelopmentofchildrenwithDownsyndrome.Altho

8、ughsomeofthephysicalgeneticlimitationsofDownsyndromecannotbeovercome,educationandpropercarewillimprovequalityoflife.[5]CharacteristicsIndividualswithDownsyndromemayhavesomeo

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