医学遗传学测试资料：Chromosomal disorder.docx

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1、1. A2-month-o1dCaucasianfema1einfantisseenforawe11babyvisit.Themotherisconcernedthatthechi1disf1oppy,butisuncertain,sincethisisherfirstchi1d.Birthweightwas7pounds2ouncesatterm.Prenata1andperinata1historiesareunremarkab1eexceptforoccasionsinthethirdtrimesterduringwhichthemotherfe1tthebabykicked1essfr

2、equent1y.Themotherwas30yearso1datthetimeofde1ivery.Priormedica1historyrevea1eda1mostcontinua1nasa1congestion.Physica1examinationrevea1ednorma1vita1signsandgrowthparameters.Findingsinc1udedas1ightupwards1antofthepa1pebra1fissures,extrafo1dsofskinattheinnerocu1arcanthi,sma11ears,tonguethrusting,shortf

3、ifthfingersbi1atera11yzandasing1epa1marf1exioncreaseonthe1eft.Musc1etonewasmoderate1ydecreasedthroughout,withapronouncedhead1ag.Chromosomeana1ysisperformeduponperiphera1b1ood1ymphocytesrevea1eda46,XX,t(15q;21q)karyotype.Theresu1tsofchromosomeana1ysesperformed(5.0)(结果包括微微向上倾斜的睑裂，额外的褶皱的皮肤的内眼眦，小耳朵，舌头冲断

4、，短的第五个手指两侧,和一个单一的掌褶纹的左边。肌肉是适度降低整个头部,具有明显的滞后。)A1Amniocentesisisindicatedforfuturepregnancies,aswe11asperiphera1b1oodIeukocytechromosomeana1ysesfora11ofthefathersfirstdegreere1atives(羊膜穿刺术是用于未来的怀孕，以及所有的父亲的一级亲属外周血白细胞染色体分析)B.Thefatherhasami1dformofDownsyndromeC.Thefatheristob1amefortheirdaughtersconditi

5、onD.Thereisnoincreasedriskforhavingachi1dwithDownsyndromewithfuturepregnanciesE.Thereisa1%recurrenceriskwitheachpregnancy2. A14-yearo1dgir1isbroughttoyouwith1ackofmenarche.Physica1examinationfindsnorma1breastdeve1opmentbutthevaginaendsinab1indpouchandthereisnopa1pab1euterus.Serumtestosteroneisinthem

6、a1erangeand1Hise1evated.Whatisthemost1ike1ykaryotypeofthischi1d?(5.0)P74A.XzXB. XzYC. XzOD.XXYE.XXX3.A15-year-o1dCaucasianma1echi1disseenintheofficeduetotheonsetofbi1atera1nontenderbreasten1argement2monthsago.Heisdoingwe11inschoo1academica11yandisamemberofthevarsitybasketba11team.Heshaveson1yonceper

7、weekandhasnotyetnotedadeepeningofhisvoice.Hehasbeenhea1thytothispoint,andthereisnofami1yhistoryofsimi1arsymptoms.Physica1examinationrevea1ednorma1vita1signs.Heightis6feet1inch.Theupper1owersegmentratiowas0.75（decreased）,andthearmspanwas76inches.Skinwasfair.Therewasscantfacia1,axi11ary,andpubichair.B

8、reastswereTannerStageII,andgenita1iawereTannerStageI.Theeva1uationmost1ike1ytoyie1dthedefinitivediagnosisis:（5.0）A. Chromosomeana1ysisofperiphera1b1ood1ymphocytes外周淋巴血细胞的染色体分析B. Estrogen1eve1雌激素水平C. MeasurementoftheaorticrootdiameterbyechocardiographyD. Testicu1arbiopsyE. TestOSteroneIeveI4,近端着丝粒染色体

9、之间通过着丝粒融合而形成的易位称为Oo（5.0分）A.单方易位B.串联易位C.罗伯逊易位D.不平衡易位E.复杂易位5.非整倍体的形成原因可以是Oo（5.0分）A.双雌受精B.双雄受精C.核内复制D.染色体不分离E.核内有丝分裂6. Acytogenetictermthatreferstoamitoticce11thatcontainstwicethenorma1numberofchromosomesis:（5.0分）A. endoredup1icatedB. dip1oidC. endoredup1icatedD. tetrapioid7. Whichofthefo11owingcou1dpr

10、oduceanXYfema1e?（5.0分）A. PointmutationintheSrygeneB. De1etionoftheSrygeneC. Trans1ocationoftheSrygenetotheXchromosomeduringmeiosisinthefatherD.A11oftheabove8. Whichofthefo11owingisnottrueofFragi1eXsyndrome?（5.0分）A.ItcanbediagnosedusingakaryotypeB. Itisassociatedwithmethy1ationC. Itiscausedbyatrinuc1

11、eotiderepeatexpansionD. Itdisp1aysnear1y100%penetrance（与CGG重复次数有关）9. Eachofthefo11owingchromosomeabnorma1itiesinvo1vesa20megabaseregionofthe1ongarmofchromosome5（5q）.Whichabnorma1ityismost1ike1ytocauseseveredisease?（5.0分）A. Dup1icationoftheregionB. De1etionofIheregionC. Aba1ancedtrans1ocationinvo1vin

12、gtheregion（i.e.,inthetrans1ocationcarrier）D.Pericentricinversion10. Ifaneneup1oidwithakaryotypethatis2N+1has9chromosomes,whatisthenorma1hap1oidnumberofthisspecies?（5.0分）A. 10B. 9C. 8D.5E.411. Whichofthefo11owingtechniqueswasmost1yusedtodetectatrisomy?（5.0分）A.Southernb1ottingB. RF1PC. FISHD. PCR-SSCP

13、12. Whichofthefo11owingchromosoma1aberrationscanbeofeithersex:（5.0分）A.XXYB.XYYC.trisomy21D.monosomicX13. Youareaskedtoeva1uatea15-year-o1dado1escentgir1forprimaryamenorrhea.Shehasbeenhea1thybuthashad1ong-standingshortstature.Nobreastbuddingwasreported.Hermotherexperiencedmenarcheatage11yearsandhasha

14、dregu1armenses.Physica1examinationrevea1edaTannerIfema1ewithmi1dpterygiumco11i,wide1ySpacednipp1es,andcubitusva1gusbi1atera11y.Heightis58inches（5thpercenti1e）.Chromosomeana1ysisofperiphera1b1oodIymphocytesrevea1eda45,Xkaryotype.Youwou1dadvisethepatientthatsheisa:（5.0分）A.CarrierofTurnersyndromeB.Cand

15、idateforestrogenrep1acementtherapy可以用雌激素治疗，第二性征得到体现，但仍旧不育C.Geneticma1eD-Postmenopausa1fema1e（绝经后女性）E.Truehermaphrodite14. Youareaskedtoeva1uatea15-year-o1dado1escentgir1forprimaryamenorrheaintheado1escentc1inic.Shehasbeenhea1thybuthashad1ong-standingshortstature.Nobreastbuddingwasreported.Hermothere

16、xperiencedmenarcheatage11yearsandhashadregu1armenses.Physica1examinationrevea1edaTannerIfema1ewithmi1dpterygiumco11i,wide1ySpacednipp1es,andcubitusva1gusbi1atera11y.Heightis58inches（5thpercenti1e）.Diagnosiswi11bemostdefinitive1yconfirmedby:（5.0分）A.Bucca1smearB.Growthhormonestimu1ationtestingC-Chromosomeana1ysisofperiphera1b1ood1ymphocytesD.Pe1vicu1trasono