Pathophysiology Exam 1 Questions with
Answers 2025
AnAorderedAphotographicAdisplayAofAaAsetAofAchromosomesAfromAaAsingleAcellAisAa(n):
A)AmetaphaseAspread.
B)AautosomalAspread.
C)Akaryotype.
D)AanaphaseAspread.A-AcorrectAanswers-c
AnAerrorAinAwhichAhomologousAchromosomesAfailAtoAseparateAduringAmeiosisAisAtermed:
A)Aaneuploidy.
B)Anondisjunction.
C)Apolyploidy.
D)Aanaplasia.A-AcorrectAanswers-b
AAsomaticAcellAthatAdoesAnotAcontainAaAmultipleAofA23AchromosomesAisAcalled:
A)AanAaneuploidAcell.
B)AaAeuploidAcell.
C)AaApolyploidyAcell.
D)AaAhaploidAcell.A-AcorrectAanswers-a
AA20-year-
oldApregnantAfemaleAgivesAbirthAtoAaAstillbornAchild.AAutopsyArevealsAthatAtheAfetusAhasA92A
chromosomes.AWhichAofAtheAfollowingAdescribesAthisAcondition?
A)AEuploidy
B)ATriploidy
C)ATetraploidy
D)AAneuploidyA-AcorrectAanswers-c
IfAaApersonAisAaAchromosomalAmosaic,AtheApersonAmay:
A)AbeAaAcarrierAofAtheAgeneticAdisease.
B)AhaveAaAmildAformAofAtheAgeneticAdisease.
C)AhaveAtwoAgeneticAdiseases.
D)AbeAsterileAasAaAresultAofAtheAgeneticAdisease.A-AcorrectAanswers-b
TheAmostAcommonAcauseAofADownAsyndromeAis:
A)ApaternalAnondisjunction.
B)AmaternalAtranslocations.
C)AmaternalAnondisjunction.
D)ApaternalAtranslocations.A-AcorrectAanswers-c
RiskAfactorsAforADownAsyndromeAinclude:
A)AfetalAexposureAtoAmutagensAinAtheAuterus.
B)AincreasedApaternalAage.
C)AfamilyAhistoryAofADownAsyndrome.
D)ApregnancyAinAwomenAoverAageA35.A-AcorrectAanswers-d
AA13-year-
oldAgirlAhasAaAkaryotypeAthatArevealsAanAabsentAhomologousAXAchromosomeAwithAonlyAaAs
ingleAXAchromosomeApresent.AHerAconditionAisAcalled:
,A)ADownAsyndrome.
B)ACriAduAchatAsyndrome.
C)ATurnerAsyndrome.
D)AEdwardAsyndromeA-AcorrectAanswers-c
AAchildAisAdiagnosedAwithAcysticAfibrosis.AHistoryArevealsAthatAtheAchild'sAparentsAareAfirstAc
ousins.ACysticAfibrosisAwasAmostAlikelyAtheAresultAof:
A)AXAinactivation.
B)AgenomicAimprinting.
C)Aconsanguinity.
D)AobligateAcarriers.A-AcorrectAanswers-c
Joey,AageA9,AisAadmittedAtoAaApediatricAunitAwithADuchenneAmuscularAdystrophy.AHeAinheri
tedAthisAconditionAthroughAa:
A)Asex-linkedAdominantAtrait.
B)Asex-influencedAtrait.
C)Asex-limitedAtrait.
D)Asex-linkedArecessiveAtrait.A-AcorrectAanswers-d
AA50-year-
oldAmaleAwasArecentlyAdiagnosedAwithAHuntingtonAdisease.ATransmissionAofAthisAdiseaseA
isAassociatedAwith:
A)Apenetrance.
B)ArecurrenceArisk.
C)Aexpressivity.
D)AdelayedAageAofAonset.A-AcorrectAanswers-d
PeopleAwhoAhaveAneurofibromatosisAwillAshowAvaryingAdegreesAofAtheAdisease;AthisAisAbe
causeAofAtheAgeneticAprincipleAof:
A)Apenetrance.
B)Aexpressivity.
C)Adominance.
D)Arecessiveness.A-AcorrectAanswers-b
CysticAfibrosisAisAcausedAbyAanA_____Agene.
A)AX-linkedAdominant
B)AX-linkedArecessive
C)AautosomalAdominant
D)AautosomalArecessiveA-AcorrectAanswers-d
ToAexpressAaApolygenicAtrait:
A)AgenesAmustAinteractAwithAtheAenvironment.
B)AseveralAgenesAmustAactAtogether.
C)AmultipleAmutationsAmustAoccurAinAtheAsameAfamily.
D)AinAsituAcloningAmustAoccur.A-AcorrectAanswers-b
TheAgradualAincreaseAinAheightAamongAtheAhumanApopulationAoverAtheApastA100AyearsAisA
anAexampleAof:
A)ApolygenicAtrait.
B)AmultifactorialAtrait.
C)AcrossingAover.
D)Arecombination.A-AcorrectAanswers-b
, AAcoupleAhasAthreeAoffspring:AoneAchildAwithAanAautosomalAdominantAdiseaseAtraitAandAtw
oAwhoAareAnormal.ATheAfatherAisAaffectedAbyAtheAautosomalAdominantAdisease,AbutAtheAmo
therAdoesAnotAhaveAtheAdiseaseAgene.AWhatAisAtheArecurrenceAriskAofAthisAautosomalAdomi
nantAdiseaseAforAtheirAnextAchild?
A)A50%
B)A33%
C)A25%
D)AImpossibleAtoAdetermineA-AcorrectAanswers-a
AA12-year-
oldAmaleAisAdiagnosedAwithAKlinefelterAsyndrome.AHisAkaryotypeAwouldArevealAwhichAofAth
eAfollowing?
A)AXY
B)AXX
C)AXYY
D)AXXYA-AcorrectAanswers-d
AA5-year-
oldAmaleApresentsAwithAmentalAretardationAandAisAdiagnosedAwithAFragileAXAsyndrome.AW
hichAofAtheAfollowingAisAmostAlikelyAtoAcauseAthisAsyndrome?
A)ATranslocation
B)AInversion
C)ANondisjunction
D)ADuplicationAatAfragileAsitesA-AcorrectAanswers-d
TheAoutwardAmanifestationAofAaAdisease,AoftenAinfluencedAbyAbothAgenesAandAtheAenviron
ment,AisAcalledAtheAdisease:
A)Agenotype.
B)Aallele.
C)Aphenotype.
D)Adominance.A-AcorrectAanswers-c
WhichAofAtheAfollowingAgeneticAdiseasesAmanifestsAwithAprogressiveAdementiaAinAmiddleAt
oAlaterAadulthood?
A)ADuchenneAmuscularAdystrophy
B)ACysticAfibrosis
C)AAchondroplasia
D)AHuntingtonAdiseaseA-AcorrectAanswers-d
WhichAofAtheAfollowingAtypesAofAgeneticAdisordersAisAtheAmostAcommonAcauseAofAmiscarri
age?
A)AAutosomalAdominant
B)AAutosomalArecessive
C)AX-linkedArecessive
D)AChromosomalA-AcorrectAanswers-d
WhichAofAtheAfollowingAisAanAaccurateAcharacteristicAofAanAautosomalArecessiveApedigree
?
A)AOnAaverage,A50%AofAtheAchildrenAwillAhaveAtheAautosomalArecessiveAdiseaseAifAoneApar
entAhasAtheAdisease.
B)AMalesAareAaffectedAmoreAthanAfemales.
Answers 2025
AnAorderedAphotographicAdisplayAofAaAsetAofAchromosomesAfromAaAsingleAcellAisAa(n):
A)AmetaphaseAspread.
B)AautosomalAspread.
C)Akaryotype.
D)AanaphaseAspread.A-AcorrectAanswers-c
AnAerrorAinAwhichAhomologousAchromosomesAfailAtoAseparateAduringAmeiosisAisAtermed:
A)Aaneuploidy.
B)Anondisjunction.
C)Apolyploidy.
D)Aanaplasia.A-AcorrectAanswers-b
AAsomaticAcellAthatAdoesAnotAcontainAaAmultipleAofA23AchromosomesAisAcalled:
A)AanAaneuploidAcell.
B)AaAeuploidAcell.
C)AaApolyploidyAcell.
D)AaAhaploidAcell.A-AcorrectAanswers-a
AA20-year-
oldApregnantAfemaleAgivesAbirthAtoAaAstillbornAchild.AAutopsyArevealsAthatAtheAfetusAhasA92A
chromosomes.AWhichAofAtheAfollowingAdescribesAthisAcondition?
A)AEuploidy
B)ATriploidy
C)ATetraploidy
D)AAneuploidyA-AcorrectAanswers-c
IfAaApersonAisAaAchromosomalAmosaic,AtheApersonAmay:
A)AbeAaAcarrierAofAtheAgeneticAdisease.
B)AhaveAaAmildAformAofAtheAgeneticAdisease.
C)AhaveAtwoAgeneticAdiseases.
D)AbeAsterileAasAaAresultAofAtheAgeneticAdisease.A-AcorrectAanswers-b
TheAmostAcommonAcauseAofADownAsyndromeAis:
A)ApaternalAnondisjunction.
B)AmaternalAtranslocations.
C)AmaternalAnondisjunction.
D)ApaternalAtranslocations.A-AcorrectAanswers-c
RiskAfactorsAforADownAsyndromeAinclude:
A)AfetalAexposureAtoAmutagensAinAtheAuterus.
B)AincreasedApaternalAage.
C)AfamilyAhistoryAofADownAsyndrome.
D)ApregnancyAinAwomenAoverAageA35.A-AcorrectAanswers-d
AA13-year-
oldAgirlAhasAaAkaryotypeAthatArevealsAanAabsentAhomologousAXAchromosomeAwithAonlyAaAs
ingleAXAchromosomeApresent.AHerAconditionAisAcalled:
,A)ADownAsyndrome.
B)ACriAduAchatAsyndrome.
C)ATurnerAsyndrome.
D)AEdwardAsyndromeA-AcorrectAanswers-c
AAchildAisAdiagnosedAwithAcysticAfibrosis.AHistoryArevealsAthatAtheAchild'sAparentsAareAfirstAc
ousins.ACysticAfibrosisAwasAmostAlikelyAtheAresultAof:
A)AXAinactivation.
B)AgenomicAimprinting.
C)Aconsanguinity.
D)AobligateAcarriers.A-AcorrectAanswers-c
Joey,AageA9,AisAadmittedAtoAaApediatricAunitAwithADuchenneAmuscularAdystrophy.AHeAinheri
tedAthisAconditionAthroughAa:
A)Asex-linkedAdominantAtrait.
B)Asex-influencedAtrait.
C)Asex-limitedAtrait.
D)Asex-linkedArecessiveAtrait.A-AcorrectAanswers-d
AA50-year-
oldAmaleAwasArecentlyAdiagnosedAwithAHuntingtonAdisease.ATransmissionAofAthisAdiseaseA
isAassociatedAwith:
A)Apenetrance.
B)ArecurrenceArisk.
C)Aexpressivity.
D)AdelayedAageAofAonset.A-AcorrectAanswers-d
PeopleAwhoAhaveAneurofibromatosisAwillAshowAvaryingAdegreesAofAtheAdisease;AthisAisAbe
causeAofAtheAgeneticAprincipleAof:
A)Apenetrance.
B)Aexpressivity.
C)Adominance.
D)Arecessiveness.A-AcorrectAanswers-b
CysticAfibrosisAisAcausedAbyAanA_____Agene.
A)AX-linkedAdominant
B)AX-linkedArecessive
C)AautosomalAdominant
D)AautosomalArecessiveA-AcorrectAanswers-d
ToAexpressAaApolygenicAtrait:
A)AgenesAmustAinteractAwithAtheAenvironment.
B)AseveralAgenesAmustAactAtogether.
C)AmultipleAmutationsAmustAoccurAinAtheAsameAfamily.
D)AinAsituAcloningAmustAoccur.A-AcorrectAanswers-b
TheAgradualAincreaseAinAheightAamongAtheAhumanApopulationAoverAtheApastA100AyearsAisA
anAexampleAof:
A)ApolygenicAtrait.
B)AmultifactorialAtrait.
C)AcrossingAover.
D)Arecombination.A-AcorrectAanswers-b
, AAcoupleAhasAthreeAoffspring:AoneAchildAwithAanAautosomalAdominantAdiseaseAtraitAandAtw
oAwhoAareAnormal.ATheAfatherAisAaffectedAbyAtheAautosomalAdominantAdisease,AbutAtheAmo
therAdoesAnotAhaveAtheAdiseaseAgene.AWhatAisAtheArecurrenceAriskAofAthisAautosomalAdomi
nantAdiseaseAforAtheirAnextAchild?
A)A50%
B)A33%
C)A25%
D)AImpossibleAtoAdetermineA-AcorrectAanswers-a
AA12-year-
oldAmaleAisAdiagnosedAwithAKlinefelterAsyndrome.AHisAkaryotypeAwouldArevealAwhichAofAth
eAfollowing?
A)AXY
B)AXX
C)AXYY
D)AXXYA-AcorrectAanswers-d
AA5-year-
oldAmaleApresentsAwithAmentalAretardationAandAisAdiagnosedAwithAFragileAXAsyndrome.AW
hichAofAtheAfollowingAisAmostAlikelyAtoAcauseAthisAsyndrome?
A)ATranslocation
B)AInversion
C)ANondisjunction
D)ADuplicationAatAfragileAsitesA-AcorrectAanswers-d
TheAoutwardAmanifestationAofAaAdisease,AoftenAinfluencedAbyAbothAgenesAandAtheAenviron
ment,AisAcalledAtheAdisease:
A)Agenotype.
B)Aallele.
C)Aphenotype.
D)Adominance.A-AcorrectAanswers-c
WhichAofAtheAfollowingAgeneticAdiseasesAmanifestsAwithAprogressiveAdementiaAinAmiddleAt
oAlaterAadulthood?
A)ADuchenneAmuscularAdystrophy
B)ACysticAfibrosis
C)AAchondroplasia
D)AHuntingtonAdiseaseA-AcorrectAanswers-d
WhichAofAtheAfollowingAtypesAofAgeneticAdisordersAisAtheAmostAcommonAcauseAofAmiscarri
age?
A)AAutosomalAdominant
B)AAutosomalArecessive
C)AX-linkedArecessive
D)AChromosomalA-AcorrectAanswers-d
WhichAofAtheAfollowingAisAanAaccurateAcharacteristicAofAanAautosomalArecessiveApedigree
?
A)AOnAaverage,A50%AofAtheAchildrenAwillAhaveAtheAautosomalArecessiveAdiseaseAifAoneApar
entAhasAtheAdisease.
B)AMalesAareAaffectedAmoreAthanAfemales.