ABGC Boards Overview Exam With 100%
Correct And Verified Answers 2025
AngelmanTSyndromeTcausesT(expressionTandT%TofTtotal)T-TCorrectTAnswer-
**paternalTimprintingTdefect,TshouldTbeTmaternalTexpressionT
5-7TkbTdeletionTonTmaternalTchr15q11.2-13T(60-70%)
UBE3ATmaternalTdeletionT(11%)
PaternalTUPD15T(3-7%)
AngelmanTtestingTstrategyTandTconditionTfeaturesT-TCorrectTAnswer-
methylationTfirstTsinceTfindsT~80%TofTcasesTthenTUBE3ATseqTandTdel/dup
features:ThappyTdemeanor,TabnormalTgait,Tseizures,Tdelayed/absentTspeech
Prader-WilliTSyndromeTcausesT(expressionTandT%TofTtotal)T-TCorrectTAnswer-
**maternalTimprintingTdefect,TshouldTbeTpaternalTexpressionTofTregionT
5-6TkbTdeletionTonTpaternalTchr15q11.2-13T(60-70%)
DeletionTinvolvesTSNRPNTgene
MaternalTUPD15T(20-30%)
PWSTtestingTstrategyTandTconditionTfeaturesT-TCorrectTAnswer-
MethylationTwillTdetectT99%
Features:Thypotonia,TFTT,Tobesity,Thyperphagia,TsmallThandsTandTfeet,TDD
AngelmanTandTPrader-WilliTpneumonicTdevicesT-TCorrectTAnswer-
MomsTareTAngelsT=TshouldThaveTmaternalTexpressionTofTtheTregionT
thereforeTPWSTisTinTaTregionTthatTtypicallyThasTpaternalTexpression
Beckwith-WiedemannTsyndromeTcausesT(imprintingTandT%Tbreakdown)T-
TCorrectTAnswer-**paternalTimprinting,TmaternallyTexpressed
SporadicT(85%)
LossTofTmethylationTonTmaternalTchr11p15.5TIC2T(50%)
PaternalTUPD11T(7-10%)
GainTofTmethylationTonTmaternalTchr11p15.5TIC1T(5%)
MaternalTCDKN1CTdeletionT(40%Tw/TfamilyThx,T5%Tw/o)TalsoTKCNQ1Tgene
Beckwith-WiedemannTsyndromeTtestingTstrategyTandTconditionTfeaturesT-
TCorrectTAnswer-OrderTmethylationTfirst,TthenTCDKN1CTsequencingTandTdel/dup
Features:Tovergrowth,Tmacroglossia,Tomphalocele,TearTpits,TWilmsTtumor
, Russell-SilverTsyndromeTcausesT(imprintingTandT%Tbreakdown)T-TCorrectTAnswer-
*maternalTimprinting,TpaternalTexpression
LossTofTmethylationTonTpaternalTchr11p15.5TIC1T(35-50%)
MaternalTUPD7T(10%)
Russell-SilverTtestingTstrategyTandTconditionTfeaturesT-TCorrectTAnswer-
OrderTmethylationTfirst,TthenTUPDTstudies
Features:TtriangularTfacies,TIUGR,TpoorTpost-
natalTgrowth,TshortTstature,TbodyTasymmetry
causesTandTimplicationsTofTcysticTplacentaT-TCorrectTAnswer-PartialTmolarTpregnancy-
Ttriploidy
TriploidyTisTincompatibleTwithTlife
HighTriskTFirstTtrimesterTscreenTforTT21TvaluesT(highTorTlow)T-TCorrectTAnswer-
highThCG,TlowTPAPP-AT
(knowTwhatTMoMTcurveTlooksTlikeTforTallTscreenTresultsTtoo)
HighTriskTFirstTtrimesterTscreenTforTT18TvaluesT(highTorTlow)T-TCorrectTAnswer-
lowThCG,TlowTPAPP-A
HighTriskTSecondTtrimesterTscreenTforTT21TvaluesT(highTorTlow)T-TCorrectTAnswer-
highThCG,ThighTinhibin-A,TlowTAFP,TlowTuE3
HighTriskTSecondTtrimesterTscreenTforTT18TvaluesT(highTorTlow)T-TCorrectTAnswer-
lowThCG,TlowTAFP,TlowTuE3
GenotypeTofTPartialTmole?T-TCorrectTAnswer-triploidyT(digyny-T69,TXXXTorTdiandry-
T69TXXY)
GenotypeTofTcompleteThydatidiformTmole?T-TCorrectTAnswer-
paternalTUPDTofTallTchromosomes
GenotypeTofTovarianTteratoma?T-TCorrectTAnswer-maternalTUPDTofTallTchromosomes
TestingTstrategy/whatTwillTbeTfoundTforTcysticTfibrosisTdxT-TCorrectTAnswer-
ElevatedTtrypsinogenTonTNBSTfollowedTbyTgeneticTmutationTanalysisT(mostTNBSTisTge
notyping)
**GoldTstandard:TConfirmTw/TsweatTtestTelevatedT>60Tu/L
Correct And Verified Answers 2025
AngelmanTSyndromeTcausesT(expressionTandT%TofTtotal)T-TCorrectTAnswer-
**paternalTimprintingTdefect,TshouldTbeTmaternalTexpressionT
5-7TkbTdeletionTonTmaternalTchr15q11.2-13T(60-70%)
UBE3ATmaternalTdeletionT(11%)
PaternalTUPD15T(3-7%)
AngelmanTtestingTstrategyTandTconditionTfeaturesT-TCorrectTAnswer-
methylationTfirstTsinceTfindsT~80%TofTcasesTthenTUBE3ATseqTandTdel/dup
features:ThappyTdemeanor,TabnormalTgait,Tseizures,Tdelayed/absentTspeech
Prader-WilliTSyndromeTcausesT(expressionTandT%TofTtotal)T-TCorrectTAnswer-
**maternalTimprintingTdefect,TshouldTbeTpaternalTexpressionTofTregionT
5-6TkbTdeletionTonTpaternalTchr15q11.2-13T(60-70%)
DeletionTinvolvesTSNRPNTgene
MaternalTUPD15T(20-30%)
PWSTtestingTstrategyTandTconditionTfeaturesT-TCorrectTAnswer-
MethylationTwillTdetectT99%
Features:Thypotonia,TFTT,Tobesity,Thyperphagia,TsmallThandsTandTfeet,TDD
AngelmanTandTPrader-WilliTpneumonicTdevicesT-TCorrectTAnswer-
MomsTareTAngelsT=TshouldThaveTmaternalTexpressionTofTtheTregionT
thereforeTPWSTisTinTaTregionTthatTtypicallyThasTpaternalTexpression
Beckwith-WiedemannTsyndromeTcausesT(imprintingTandT%Tbreakdown)T-
TCorrectTAnswer-**paternalTimprinting,TmaternallyTexpressed
SporadicT(85%)
LossTofTmethylationTonTmaternalTchr11p15.5TIC2T(50%)
PaternalTUPD11T(7-10%)
GainTofTmethylationTonTmaternalTchr11p15.5TIC1T(5%)
MaternalTCDKN1CTdeletionT(40%Tw/TfamilyThx,T5%Tw/o)TalsoTKCNQ1Tgene
Beckwith-WiedemannTsyndromeTtestingTstrategyTandTconditionTfeaturesT-
TCorrectTAnswer-OrderTmethylationTfirst,TthenTCDKN1CTsequencingTandTdel/dup
Features:Tovergrowth,Tmacroglossia,Tomphalocele,TearTpits,TWilmsTtumor
, Russell-SilverTsyndromeTcausesT(imprintingTandT%Tbreakdown)T-TCorrectTAnswer-
*maternalTimprinting,TpaternalTexpression
LossTofTmethylationTonTpaternalTchr11p15.5TIC1T(35-50%)
MaternalTUPD7T(10%)
Russell-SilverTtestingTstrategyTandTconditionTfeaturesT-TCorrectTAnswer-
OrderTmethylationTfirst,TthenTUPDTstudies
Features:TtriangularTfacies,TIUGR,TpoorTpost-
natalTgrowth,TshortTstature,TbodyTasymmetry
causesTandTimplicationsTofTcysticTplacentaT-TCorrectTAnswer-PartialTmolarTpregnancy-
Ttriploidy
TriploidyTisTincompatibleTwithTlife
HighTriskTFirstTtrimesterTscreenTforTT21TvaluesT(highTorTlow)T-TCorrectTAnswer-
highThCG,TlowTPAPP-AT
(knowTwhatTMoMTcurveTlooksTlikeTforTallTscreenTresultsTtoo)
HighTriskTFirstTtrimesterTscreenTforTT18TvaluesT(highTorTlow)T-TCorrectTAnswer-
lowThCG,TlowTPAPP-A
HighTriskTSecondTtrimesterTscreenTforTT21TvaluesT(highTorTlow)T-TCorrectTAnswer-
highThCG,ThighTinhibin-A,TlowTAFP,TlowTuE3
HighTriskTSecondTtrimesterTscreenTforTT18TvaluesT(highTorTlow)T-TCorrectTAnswer-
lowThCG,TlowTAFP,TlowTuE3
GenotypeTofTPartialTmole?T-TCorrectTAnswer-triploidyT(digyny-T69,TXXXTorTdiandry-
T69TXXY)
GenotypeTofTcompleteThydatidiformTmole?T-TCorrectTAnswer-
paternalTUPDTofTallTchromosomes
GenotypeTofTovarianTteratoma?T-TCorrectTAnswer-maternalTUPDTofTallTchromosomes
TestingTstrategy/whatTwillTbeTfoundTforTcysticTfibrosisTdxT-TCorrectTAnswer-
ElevatedTtrypsinogenTonTNBSTfollowedTbyTgeneticTmutationTanalysisT(mostTNBSTisTge
notyping)
**GoldTstandard:TConfirmTw/TsweatTtestTelevatedT>60Tu/L