PATHOPHYSIOLOGY EXAM 1
QUESTIONS AND ANSWERS .
An |ordered |photographic |display |of |a |set |of |chromosomes |from |a |single |cell |is |a(n):
A) |metaphase |spread.
B) |autosomal |spread.
C) |karyotype.
D) |anaphase |spread. |- |ANS |-c
An |error |in |which |homologous |chromosomes |fail |to |separate |during |meiosis |is |termed:
A) |aneuploidy.
B) |nondisjunction.
C) |polyploidy.
D) |anaplasia. |- |ANS |-b
A |somatic |cell |that |does |not |contain |a |multiple |of |23 |chromosomes |is |called:
A) |an |aneuploid |cell.
B) |a |euploid |cell.
C) |a |polyploidy |cell.
D) |a |haploid |cell. |- |ANS |-a
A |20-year-old |pregnant |female |gives |birth |to |a |stillborn |child. |Autopsy |reveals |that |the |fetus |
has |92 |chromosomes. |Which |of |the |following |describes |this |condition?
A) |Euploidy
,B) |Triploidy
C) |Tetraploidy
D) |Aneuploidy |- |ANS |-c
If |a |person |is |a |chromosomal |mosaic, |the |person |may:
A) |be |a |carrier |of |the |genetic |disease.
B) |have |a |mild |form |of |the |genetic |disease.
C) |have |two |genetic |diseases.
D) |be |sterile |as |a |result |of |the |genetic |disease. |- |ANS |-b
The |most |common |cause |of |Down |syndrome |is:
A) |paternal |nondisjunction.
B) |maternal |translocations.
C) |maternal |nondisjunction.
D) |paternal |translocations. |- |ANS |-c
Risk |factors |for |Down |syndrome |include:
A) |fetal |exposure |to |mutagens |in |the |uterus.
B) |increased |paternal |age.
C) |family |history |of |Down |syndrome.
D) |pregnancy |in |women |over |age |35. |- |ANS |-d
A |13-year-old |girl |has |a |karyotype |that |reveals |an |absent |homologous |X |chromosome |with |
only |a |single |X |chromosome |present. |Her |condition |is |called:
A) |Down |syndrome.
B) |Cri |du |chat |syndrome.
,C) |Turner |syndrome.
D) |Edward |syndrome |- |ANS |-c
A |child |is |diagnosed |with |cystic |fibrosis. |History |reveals |that |the |child's |parents |are |first |
cousins. |Cystic |fibrosis |was |most |likely |the |result |of:
A) |X |inactivation.
B) |genomic |imprinting.
C) |consanguinity.
D) |obligate |carriers. |- |ANS |-c
Joey, |age |9, |is |admitted |to |a |pediatric |unit |with |Duchenne |muscular |dystrophy. |He |inherited |
this |condition |through |a:
A) |sex-linked |dominant |trait.
B) |sex-influenced |trait.
C) |sex-limited |trait.
D) |sex-linked |recessive |trait. |- |ANS |-d
A |50-year-old |male |was |recently |diagnosed |with |Huntington |disease. |Transmission |of |this |
disease |is |associated |with:
A) |penetrance.
B) |recurrence |risk.
C) |expressivity.
D) |delayed |age |of |onset. |- |ANS |-d
People |who |have |neurofibromatosis |will |show |varying |degrees |of |the |disease; |this |is |because |
of |the |genetic |principle |of:
A) |penetrance.
, B) |expressivity.
C) |dominance.
D) |recessiveness. |- |ANS |-b
Cystic |fibrosis |is |caused |by |an |_____ |gene.
A) |X-linked |dominant
B) |X-linked |recessive
C) |autosomal |dominant
D) |autosomal |recessive |- |ANS |-d
To |express |a |polygenic |trait:
A) |genes |must |interact |with |the |environment.
B) |several |genes |must |act |together.
C) |multiple |mutations |must |occur |in |the |same |family.
D) |in |situ |cloning |must |occur. |- |ANS |-b
The |gradual |increase |in |height |among |the |human |population |over |the |past |100 |years |is |an |
example |of:
A) |polygenic |trait.
B) |multifactorial |trait.
C) |crossing |over.
D) |recombination. |- |ANS |-b
A |couple |has |three |offspring: |one |child |with |an |autosomal |dominant |disease |trait |and |two |
who |are |normal. |The |father |is |affected |by |the |autosomal |dominant |disease, |but |the |mother |
does |not |have |the |disease |gene. |What |is |the |recurrence |risk |of |this |autosomal |dominant |
disease |for |their |next |child?
QUESTIONS AND ANSWERS .
An |ordered |photographic |display |of |a |set |of |chromosomes |from |a |single |cell |is |a(n):
A) |metaphase |spread.
B) |autosomal |spread.
C) |karyotype.
D) |anaphase |spread. |- |ANS |-c
An |error |in |which |homologous |chromosomes |fail |to |separate |during |meiosis |is |termed:
A) |aneuploidy.
B) |nondisjunction.
C) |polyploidy.
D) |anaplasia. |- |ANS |-b
A |somatic |cell |that |does |not |contain |a |multiple |of |23 |chromosomes |is |called:
A) |an |aneuploid |cell.
B) |a |euploid |cell.
C) |a |polyploidy |cell.
D) |a |haploid |cell. |- |ANS |-a
A |20-year-old |pregnant |female |gives |birth |to |a |stillborn |child. |Autopsy |reveals |that |the |fetus |
has |92 |chromosomes. |Which |of |the |following |describes |this |condition?
A) |Euploidy
,B) |Triploidy
C) |Tetraploidy
D) |Aneuploidy |- |ANS |-c
If |a |person |is |a |chromosomal |mosaic, |the |person |may:
A) |be |a |carrier |of |the |genetic |disease.
B) |have |a |mild |form |of |the |genetic |disease.
C) |have |two |genetic |diseases.
D) |be |sterile |as |a |result |of |the |genetic |disease. |- |ANS |-b
The |most |common |cause |of |Down |syndrome |is:
A) |paternal |nondisjunction.
B) |maternal |translocations.
C) |maternal |nondisjunction.
D) |paternal |translocations. |- |ANS |-c
Risk |factors |for |Down |syndrome |include:
A) |fetal |exposure |to |mutagens |in |the |uterus.
B) |increased |paternal |age.
C) |family |history |of |Down |syndrome.
D) |pregnancy |in |women |over |age |35. |- |ANS |-d
A |13-year-old |girl |has |a |karyotype |that |reveals |an |absent |homologous |X |chromosome |with |
only |a |single |X |chromosome |present. |Her |condition |is |called:
A) |Down |syndrome.
B) |Cri |du |chat |syndrome.
,C) |Turner |syndrome.
D) |Edward |syndrome |- |ANS |-c
A |child |is |diagnosed |with |cystic |fibrosis. |History |reveals |that |the |child's |parents |are |first |
cousins. |Cystic |fibrosis |was |most |likely |the |result |of:
A) |X |inactivation.
B) |genomic |imprinting.
C) |consanguinity.
D) |obligate |carriers. |- |ANS |-c
Joey, |age |9, |is |admitted |to |a |pediatric |unit |with |Duchenne |muscular |dystrophy. |He |inherited |
this |condition |through |a:
A) |sex-linked |dominant |trait.
B) |sex-influenced |trait.
C) |sex-limited |trait.
D) |sex-linked |recessive |trait. |- |ANS |-d
A |50-year-old |male |was |recently |diagnosed |with |Huntington |disease. |Transmission |of |this |
disease |is |associated |with:
A) |penetrance.
B) |recurrence |risk.
C) |expressivity.
D) |delayed |age |of |onset. |- |ANS |-d
People |who |have |neurofibromatosis |will |show |varying |degrees |of |the |disease; |this |is |because |
of |the |genetic |principle |of:
A) |penetrance.
, B) |expressivity.
C) |dominance.
D) |recessiveness. |- |ANS |-b
Cystic |fibrosis |is |caused |by |an |_____ |gene.
A) |X-linked |dominant
B) |X-linked |recessive
C) |autosomal |dominant
D) |autosomal |recessive |- |ANS |-d
To |express |a |polygenic |trait:
A) |genes |must |interact |with |the |environment.
B) |several |genes |must |act |together.
C) |multiple |mutations |must |occur |in |the |same |family.
D) |in |situ |cloning |must |occur. |- |ANS |-b
The |gradual |increase |in |height |among |the |human |population |over |the |past |100 |years |is |an |
example |of:
A) |polygenic |trait.
B) |multifactorial |trait.
C) |crossing |over.
D) |recombination. |- |ANS |-b
A |couple |has |three |offspring: |one |child |with |an |autosomal |dominant |disease |trait |and |two |
who |are |normal. |The |father |is |affected |by |the |autosomal |dominant |disease, |but |the |mother |
does |not |have |the |disease |gene. |What |is |the |recurrence |risk |of |this |autosomal |dominant |
disease |for |their |next |child?
