ABGC Exam Practice Questions With
100% Correct And Verified Answers 2024
UnderTwhatTcircumstancesTshouldTanTinfantTwithTclinicalTfeaturesTofTDownTsyndromeT
beTkaryotyped?T
A.TOnlyTifTtheTparentsTdesireTmoreTchildrenT
B.TOnlyTifTtheTmotherTisTyoungerTthanT35TyearsToldT
C.TOnlyTifTnotTallTofTtheTfeaturesTofTDownTsyndromeTareTpresentT
D.TOnlyTifTtheTmotherThasThadT3TearlyTmiscarriagesT
E.TAlwaysT-TCorrectTAnswer-E.TAlways
WhatTisTtheTparentalToriginTandTstageTofTmeiosisTwhenTmostTmeioticTerrorsToccurTres
ultingTinTchromosomalTtrisomy?T
A.TMaternalTmeiosisTIT
B.TPaternalTmeiosisTIT
C.TMaternalTmeiosisTIIT
D.TPaternalTmeiosisTIIT
E.TMaternalTmeiosisTITandTIITareTequallyTlikelyT-TCorrectTAnswer-
A.TMaternalTmeiosisTI
AT23-year-oldTwomanThasTaTbabyTwithTtheTkaryotypeT47,XY,
+21.TWhichTofTtheTfollowingTisTtheTcorrectTconclusion?T
A.TThisTwoman'sTriskTforThavingTanotherTbabyTwithTaTchromosomeTabnormalityTisTthe
TsameTasTotherTwomenTherTage
B.TEitherTtheTwomanTorTherThusbandTprobablyThasTaTRobertsonianTtranslocationT
C.TEitherTtheTwomanTorTherThusbandTprobablyThasTgermTlineTmosaicismT
D.TEitherTtheTwomanTorTherThusbandTprobablyTcarriersTaTbalancedTreciprocalTtransloc
ationT
E.TBothTmembersTofTtheTcoupleTprobablyThaveTnormalTchromosomesT-
TCorrectTAnswer-
E.TBothTmembersTofTtheTcoupleTprobablyThaveTnormalTchromosomes
WhichTofTtheTfollowingTcytogeneticTresultsTlistedTbelowTindicateTthatTtheTchildTinTquest
ionThasTDownTsyndrome?T
A.T47,XX,+22T
B.T46,XY,t(2;21)(q13;q21)patT
C.T46,XY,+21,der(21;22)(q10;q10)T
D.T45,XX,der(14;21)(q10;q10)matT
E.T46,XX.ishTdel(21)(q22.3q22.3)(D21S65-)T-TCorrectTAnswer-C.T46,XY,+21,der(21;22)
(q10;q10)
T/
FTTheTkaryotypeTofTaTspontaneousTabortionTisTmoreTlikelyTtoTbeTabnormalTthanTthatT
ofTaTstillbornTinfant.T-TCorrectTAnswer-True
,T/
FTTheTmostTcommonTDownTsyndromeTkaryotypeTinvolvesTaTRobertsonianTtranslocatio
nTbetweenTchromosomesT14TandT21T-TCorrectTAnswer-False
T/
FTItTisTpossibleTtoThaveTtheTDownTsyndromeTphenotypeTandThaveT46Tchromosomes.T
-TCorrectTAnswer-True
T/FTMostTofTtheTmothersTofTbabiesTwithTDownTsyndromeTareToverT35TyearsTofTage.T-
TCorrectTAnswer-False
AnTindividualTwithT45TchromosomesTandTaTRobertsonianTtranslocationTbetweenTbothT
copiesTofTchromosomeT21TcanThaveTliveTbornTchildrenTwithTaTnormalTkaryotypeTorTwit
hTtrisomyT21.T-TCorrectTAnswer-False
WhichTofTtheTfollowingTkaryotypes,TifTobservedTinTanTembryo,TisTleastTlikelyTtoTsurvive
TtoTbirth?T
A.T45,XT
B.T47,XX,+16T
C.T47,XX,+21T
D.T47,XX,+18T
E.TmosT47,XXX/46,XXT-TCorrectTAnswer-B.T47,XX,+16
WhichTofTtheTfollowingTchromosomeTabnormalitiesToccursTonlyTduringTmeiosisTII?T
A.T45,XT
B.T47,XXXT
C.T47,XXYT
D.T47,XYYT
E.TmosT45,X/46,XXT-TCorrectTAnswer-D.T47,XYY
WhichTfetalTkaryotype,TdetectedTbyTprenatalTdiagnosis,TwouldTwarrantTkaryotypingTthe
Tparents?TA.T47,XXYT
B.T45,XT
C.T46,XX,t(1:10)(p13;q12)T
D.T47,XY,+21T
E.T69,XXXT-TCorrectTAnswer-C.T46,XX,t(1:10)(p13;q12)
ATcoupleTwhoTrecentlyThadTaTdaughterTwithTaTchromosomeTabnormalityTcomesTforTge
neticTcounseling.TTheirTdaughter'sTkaryotypeTisT46,XX,del(3)
(p25.3).TBothTparentsTareTstudiedTandTtheirTkaryotypesTareTnormal.TTheTmostTaccurat
eTcounselingTisTthat:TA.TSmallTdeletionsTdoTnotTusuallyTcauseTsevereTbirthTdefectsTan
dTmentalTretardationT
B.TAlthoughTbothTparentsThaveTnormalTkaryotypes,TtheyTcouldTstillThaveTaTsmallTincre
asedTchanceTofThavingTanotherTchildTwithTanTunbalancedTkaryotypeTdueTtoTtheTpossi
bilityTofTgermTlineTmosaicism
, C.TTheTparentalTchromosomeTtestingTshouldTbeTrepeatedTsinceToneTparentTshouldTha
veTaTbalancedTtranslocationTtoTexplainTtheTdeletionTinTtheTchild
D.TTheTproband'sTphenotypicallyTnormalTsiblingsTshouldTbeTkaryotypedTtoTdetermineTi
fTtheyTareTbalancedTtranslocationTcarriers
E.TBecauseTtheTdeletionTisTdeTnovo,TtheTprobandTisTlessTlikelyTtoThaveTbirthTdefectsT
andTmentalTretardationTthanTifTitTwasTinheritedTseT-TCorrectTAnswer-
B.TAlthoughTbothTparentsThaveTnormalTkaryotypes,TtheyTcouldTstillThaveTaTsmallTincre
asedTchanceTofThavingTanotherTchildTwithTanTunbalancedTkaryotypeTdueTtoTtheTpossi
bilityTofTgermTlineTmosaicism
WhichTofTtheTfollowingTstatementsTisTincorrect?T
A.TTheTkaryotypeTofT47,XXXTisTmoreTcommonTthanT45,XTinTliveTbornTinfantsT
B.TIndividualsTwithT47,XXXTareTmoreTlikelyTtoThaveTmalformationsTofTtheTheartTandTki
dneysTthanTareTthoseTwithT45,X
C.TATchromosomeTanalysisTisTindicatedTforTanTadultTmaleTwithTinfertilityTofTunknownTc
auseT
D.TTheTkaryotypeT47,XYYTisTnotTusuallyTassociatedTwithTmajorTbirthTdefectsT
E.TAnTindividualTwithTtheTkaryotypeT48,XXXXTisTmoreTlikelyTtoTbeTmentallyTretardedTt
hanToneTwithT47,XXXT-TCorrectTAnswer-
B.TIndividualsTwithT47,XXXTareTmoreTlikelyTtoThaveTmalformationsTofTtheTheartTandTki
dneysTthanTareTthoseTwithT45,X
ATgirlTwithTshortTstatureTundergoesTchromosomeTanalysisTbecauseTofTtheTsuspicionTs
heTmayThaveTTurnerTsyndrome.TSheThasTnormalTfemaleTexternalTgenitalia.THerTkaryo
typeTisTmos45,X/
47,XYY.TNoTotherTcellTlinesTareTobserved.TWhatTisTtheTmostTlikelyTkaryotypeTofTtheTfe
rtilizedTeggTfromTwhichTsheTdeveloped?T
A.T45,XT
B.T46,XXT
C.T46,XYT
D.T47,XYYT
E.T47,XXYT-TCorrectTAnswer-C.T46,XY
ATnondisjunctionalTeventTatTwhichTstageTisTtheTmostTlikelyTsourceTofTtheTerrorTcausin
gTaTmosT45,X/47,XYYTkaryotype?T
A.TPaternalTmeiosisTIIT
B.TPaternalTmeiosisTIT
C.TMaternalTmeiosisTITorTIIT
D.TMitosisTveryTearlyTinTembryonicTdevelopmentT
E.TMitosisTrelativelyTlateTinTembryonicTdevelopmentT-TCorrectTAnswer-
D.TMitosisTveryTearlyTinTembryonicTdevelopment
ChromosomeTanalysisTofTaTchildTwithTmultipleTbirthTdefectsTrevealsTtheTfollowingTkary
otype:T46,XY,der(8),t(8;12)(q22;p12).TWhichTofTtheTfollowingTinterpretationsTisTfalse?T
A.TTheTchildThasTpartialTmonosomyT8qTandTpartialTtrisomyT12pT
B.TTheTparentsTshouldTbeTofferedTprenatalTdiagnosisTinTfutureTpregnanciesT
100% Correct And Verified Answers 2024
UnderTwhatTcircumstancesTshouldTanTinfantTwithTclinicalTfeaturesTofTDownTsyndromeT
beTkaryotyped?T
A.TOnlyTifTtheTparentsTdesireTmoreTchildrenT
B.TOnlyTifTtheTmotherTisTyoungerTthanT35TyearsToldT
C.TOnlyTifTnotTallTofTtheTfeaturesTofTDownTsyndromeTareTpresentT
D.TOnlyTifTtheTmotherThasThadT3TearlyTmiscarriagesT
E.TAlwaysT-TCorrectTAnswer-E.TAlways
WhatTisTtheTparentalToriginTandTstageTofTmeiosisTwhenTmostTmeioticTerrorsToccurTres
ultingTinTchromosomalTtrisomy?T
A.TMaternalTmeiosisTIT
B.TPaternalTmeiosisTIT
C.TMaternalTmeiosisTIIT
D.TPaternalTmeiosisTIIT
E.TMaternalTmeiosisTITandTIITareTequallyTlikelyT-TCorrectTAnswer-
A.TMaternalTmeiosisTI
AT23-year-oldTwomanThasTaTbabyTwithTtheTkaryotypeT47,XY,
+21.TWhichTofTtheTfollowingTisTtheTcorrectTconclusion?T
A.TThisTwoman'sTriskTforThavingTanotherTbabyTwithTaTchromosomeTabnormalityTisTthe
TsameTasTotherTwomenTherTage
B.TEitherTtheTwomanTorTherThusbandTprobablyThasTaTRobertsonianTtranslocationT
C.TEitherTtheTwomanTorTherThusbandTprobablyThasTgermTlineTmosaicismT
D.TEitherTtheTwomanTorTherThusbandTprobablyTcarriersTaTbalancedTreciprocalTtransloc
ationT
E.TBothTmembersTofTtheTcoupleTprobablyThaveTnormalTchromosomesT-
TCorrectTAnswer-
E.TBothTmembersTofTtheTcoupleTprobablyThaveTnormalTchromosomes
WhichTofTtheTfollowingTcytogeneticTresultsTlistedTbelowTindicateTthatTtheTchildTinTquest
ionThasTDownTsyndrome?T
A.T47,XX,+22T
B.T46,XY,t(2;21)(q13;q21)patT
C.T46,XY,+21,der(21;22)(q10;q10)T
D.T45,XX,der(14;21)(q10;q10)matT
E.T46,XX.ishTdel(21)(q22.3q22.3)(D21S65-)T-TCorrectTAnswer-C.T46,XY,+21,der(21;22)
(q10;q10)
T/
FTTheTkaryotypeTofTaTspontaneousTabortionTisTmoreTlikelyTtoTbeTabnormalTthanTthatT
ofTaTstillbornTinfant.T-TCorrectTAnswer-True
,T/
FTTheTmostTcommonTDownTsyndromeTkaryotypeTinvolvesTaTRobertsonianTtranslocatio
nTbetweenTchromosomesT14TandT21T-TCorrectTAnswer-False
T/
FTItTisTpossibleTtoThaveTtheTDownTsyndromeTphenotypeTandThaveT46Tchromosomes.T
-TCorrectTAnswer-True
T/FTMostTofTtheTmothersTofTbabiesTwithTDownTsyndromeTareToverT35TyearsTofTage.T-
TCorrectTAnswer-False
AnTindividualTwithT45TchromosomesTandTaTRobertsonianTtranslocationTbetweenTbothT
copiesTofTchromosomeT21TcanThaveTliveTbornTchildrenTwithTaTnormalTkaryotypeTorTwit
hTtrisomyT21.T-TCorrectTAnswer-False
WhichTofTtheTfollowingTkaryotypes,TifTobservedTinTanTembryo,TisTleastTlikelyTtoTsurvive
TtoTbirth?T
A.T45,XT
B.T47,XX,+16T
C.T47,XX,+21T
D.T47,XX,+18T
E.TmosT47,XXX/46,XXT-TCorrectTAnswer-B.T47,XX,+16
WhichTofTtheTfollowingTchromosomeTabnormalitiesToccursTonlyTduringTmeiosisTII?T
A.T45,XT
B.T47,XXXT
C.T47,XXYT
D.T47,XYYT
E.TmosT45,X/46,XXT-TCorrectTAnswer-D.T47,XYY
WhichTfetalTkaryotype,TdetectedTbyTprenatalTdiagnosis,TwouldTwarrantTkaryotypingTthe
Tparents?TA.T47,XXYT
B.T45,XT
C.T46,XX,t(1:10)(p13;q12)T
D.T47,XY,+21T
E.T69,XXXT-TCorrectTAnswer-C.T46,XX,t(1:10)(p13;q12)
ATcoupleTwhoTrecentlyThadTaTdaughterTwithTaTchromosomeTabnormalityTcomesTforTge
neticTcounseling.TTheirTdaughter'sTkaryotypeTisT46,XX,del(3)
(p25.3).TBothTparentsTareTstudiedTandTtheirTkaryotypesTareTnormal.TTheTmostTaccurat
eTcounselingTisTthat:TA.TSmallTdeletionsTdoTnotTusuallyTcauseTsevereTbirthTdefectsTan
dTmentalTretardationT
B.TAlthoughTbothTparentsThaveTnormalTkaryotypes,TtheyTcouldTstillThaveTaTsmallTincre
asedTchanceTofThavingTanotherTchildTwithTanTunbalancedTkaryotypeTdueTtoTtheTpossi
bilityTofTgermTlineTmosaicism
, C.TTheTparentalTchromosomeTtestingTshouldTbeTrepeatedTsinceToneTparentTshouldTha
veTaTbalancedTtranslocationTtoTexplainTtheTdeletionTinTtheTchild
D.TTheTproband'sTphenotypicallyTnormalTsiblingsTshouldTbeTkaryotypedTtoTdetermineTi
fTtheyTareTbalancedTtranslocationTcarriers
E.TBecauseTtheTdeletionTisTdeTnovo,TtheTprobandTisTlessTlikelyTtoThaveTbirthTdefectsT
andTmentalTretardationTthanTifTitTwasTinheritedTseT-TCorrectTAnswer-
B.TAlthoughTbothTparentsThaveTnormalTkaryotypes,TtheyTcouldTstillThaveTaTsmallTincre
asedTchanceTofThavingTanotherTchildTwithTanTunbalancedTkaryotypeTdueTtoTtheTpossi
bilityTofTgermTlineTmosaicism
WhichTofTtheTfollowingTstatementsTisTincorrect?T
A.TTheTkaryotypeTofT47,XXXTisTmoreTcommonTthanT45,XTinTliveTbornTinfantsT
B.TIndividualsTwithT47,XXXTareTmoreTlikelyTtoThaveTmalformationsTofTtheTheartTandTki
dneysTthanTareTthoseTwithT45,X
C.TATchromosomeTanalysisTisTindicatedTforTanTadultTmaleTwithTinfertilityTofTunknownTc
auseT
D.TTheTkaryotypeT47,XYYTisTnotTusuallyTassociatedTwithTmajorTbirthTdefectsT
E.TAnTindividualTwithTtheTkaryotypeT48,XXXXTisTmoreTlikelyTtoTbeTmentallyTretardedTt
hanToneTwithT47,XXXT-TCorrectTAnswer-
B.TIndividualsTwithT47,XXXTareTmoreTlikelyTtoThaveTmalformationsTofTtheTheartTandTki
dneysTthanTareTthoseTwithT45,X
ATgirlTwithTshortTstatureTundergoesTchromosomeTanalysisTbecauseTofTtheTsuspicionTs
heTmayThaveTTurnerTsyndrome.TSheThasTnormalTfemaleTexternalTgenitalia.THerTkaryo
typeTisTmos45,X/
47,XYY.TNoTotherTcellTlinesTareTobserved.TWhatTisTtheTmostTlikelyTkaryotypeTofTtheTfe
rtilizedTeggTfromTwhichTsheTdeveloped?T
A.T45,XT
B.T46,XXT
C.T46,XYT
D.T47,XYYT
E.T47,XXYT-TCorrectTAnswer-C.T46,XY
ATnondisjunctionalTeventTatTwhichTstageTisTtheTmostTlikelyTsourceTofTtheTerrorTcausin
gTaTmosT45,X/47,XYYTkaryotype?T
A.TPaternalTmeiosisTIIT
B.TPaternalTmeiosisTIT
C.TMaternalTmeiosisTITorTIIT
D.TMitosisTveryTearlyTinTembryonicTdevelopmentT
E.TMitosisTrelativelyTlateTinTembryonicTdevelopmentT-TCorrectTAnswer-
D.TMitosisTveryTearlyTinTembryonicTdevelopment
ChromosomeTanalysisTofTaTchildTwithTmultipleTbirthTdefectsTrevealsTtheTfollowingTkary
otype:T46,XY,der(8),t(8;12)(q22;p12).TWhichTofTtheTfollowingTinterpretationsTisTfalse?T
A.TTheTchildThasTpartialTmonosomyT8qTandTpartialTtrisomyT12pT
B.TTheTparentsTshouldTbeTofferedTprenatalTdiagnosisTinTfutureTpregnanciesT