Question 1

Which of the following is potentially the most severe aspect of Marfan syndrome?

Accepted Answer

A)  Blindness 
B)  Sprains due to joint laxity 
C)  Dilatation of the ascending aorta 
D)  Mental retardation 
E)  Low blood pressure due to excessive height 
A)  Blindness 
B)  Sprains due to joint laxity 
C)  Dilatation of the ascending aorta 
D)  Mental retardation 
E)  Low blood pressure due to excessive height C

Question 2

Although anticipation has now been demonstrated for myotonic dystrophy,it was once argued that the appearance of increased severity in successive generations might have been due to which of the following?

Accepted Answer

A)  Sex limitation of the phenotype 
B)  Ascertainment bias 
C)  Increased anxiety in the family 
D)  A negative effect of therapies 
A)  Sex limitation of the phenotype 
B)  Ascertainment bias 
C)  Increased anxiety in the family 
D)  A negative effect of therapies B

Question 3

Which of the following is a feature of the inheritance pattern of Huntington's disease?

Accepted Answer

A)  It is sex-limited 
B)  The phenotype is not seen until after 50 years of age 
C)  It exhibits anticipation 
D)  It is passed only through females 
E)  All of the above 
A)  It is sex-limited 
B)  The phenotype is not seen until after 50 years of age 
C)  It exhibits anticipation 
D)  It is passed only through females 
E)  All of the above C

Question 4

Café-au-lait spots are a feature of what phenotype?

Accepted Answer

A)  Charcot-Marie-Tooth disease 
B)  Myotonic dystrophy 
C)  Neurofibromatosis 
D)  Huntington disease 
E)  Marfan syndrome 
A)  Charcot-Marie-Tooth disease 
B)  Myotonic dystrophy 
C)  Neurofibromatosis 
D)  Huntington disease 
E)  Marfan syndrome

Question 5

Neurofibromin downregulates the activity of which protein?

Accepted Answer

A)  p53 
B)  RAS 
C)  RB 
D)  HNF1A 
E)  CAPN10 
A)  p53 
B)  RAS 
C)  RB 
D)  HNF1A 
E)  CAPN10

Question 6

Which of the following is true of CFTR mutations?

Accepted Answer

A)  Mutations affecting the function of CFTR are always associated with a classic CF phenotype 
B)  There are clear genotype-phenotype correlations for CFTR mutations 
C)  Mutations can present as congenital bilateral absence of the vas deferens as the sole phenotype 
D)  The IVS8 9T variant allele causes classic CF 
E)  Pancreatic insufficiency is rarely found in people with the DF508 mutation 
A)  Mutations affecting the function of CFTR are always associated with a classic CF phenotype 
B)  There are clear genotype-phenotype correlations for CFTR mutations 
C)  Mutations can present as congenital bilateral absence of the vas deferens as the sole phenotype 
D)  The IVS8 9T variant allele causes classic CF 
E)  Pancreatic insufficiency is rarely found in people with the DF508 mutation

Question 7

In addition to the lungs,what other major organ is affected by cystic fibrosis?

Accepted Answer

A)  Heart 
B)  Muscle 
C)  Brain 
D)  Pancreas 
E)  Kidney 
A)  Heart 
B)  Muscle 
C)  Brain 
D)  Pancreas 
E)  Kidney

Question 8

Although deletions in the dystrophin gene cause both Duchenne and Becker muscular dystrophy,what feature is shared by the Becker MD-associated mutations?

Accepted Answer

A)  They maintain the reading frame 
B)  They are smaller 
C)  They occur in the 5' region of the gene 
D)  They occur in the 3' region of the gene 
E)  They delete an alternate exon 
A)  They maintain the reading frame 
B)  They are smaller 
C)  They occur in the 5' region of the gene 
D)  They occur in the 3' region of the gene 
E)  They delete an alternate exon

Question 9

The reciprocal deletion of the duplication causing hereditary and motor-sensory neuropathy is associated with what phenotype?

Accepted Answer

A)  Normal phenotype 
B)  Recurrent miscarriages 
C)  Charcot-Marie-Tooth disease 
D)  Pain insensitivity 
E)  Hereditary neuropathy with pressure palsies 
A)  Normal phenotype 
B)  Recurrent miscarriages 
C)  Charcot-Marie-Tooth disease 
D)  Pain insensitivity 
E)  Hereditary neuropathy with pressure palsies

Question 10

Which of the following mutations is associated with the myotonic dystrophy phenotype?

Accepted Answer

A)  A CCTG expansion 3' of ZNF9 
B)  A deletion in DMPK 
C)  A trinucleotide repeat expansion 3' of DMPK 
D)  A and C 
E)  B and C 
A)  A CCTG expansion 3' of ZNF9 
B)  A deletion in DMPK 
C)  A trinucleotide repeat expansion 3' of DMPK 
D)  A and C 
E)  B and C

Which of the following is potentially the most severe aspect of Marfan syndrome?

Although anticipation has now been demonstrated for myotonic dystrophy,it was once argued that the appearance of increased severity in successive generations might have been due to which of the following?

Which of the following is a feature of the inheritance pattern of Huntington's disease?

Café-au-lait spots are a feature of what phenotype?

Neurofibromin downregulates the activity of which protein?

Which of the following is true of CFTR mutations?

In addition to the lungs,what other major organ is affected by cystic fibrosis?

Although deletions in the dystrophin gene cause both Duchenne and Becker muscular dystrophy,what feature is shared by the Becker MD-associated mutations?

The reciprocal deletion of the duplication causing hereditary and motor-sensory neuropathy is associated with what phenotype?

Which of the following mutations is associated with the myotonic dystrophy phenotype?

The History and Impact of Genetics in Medicine

The Cellular and Molecular Basis of Inheritance

Chromosomes and Cell Division

Dna Technology and Applications

Mapping and Identifying Genes for Monogenic Disorders

Developmental Genetics

Patterns of Inheritance

Population and Mathematical Genetics

Polygenic and Multifactorial Inheritance

Hemoglobin and the Hemoglobinopathies

Biochemical Genetics

Pharmacogenetics

Immunogenetics

Cancer Genetics

Genetic Factors in Common Diseases

Congenital Abnormalities and Dysmorphic Syndromes

Genetic Counseling

Chromosome Disorders

Screening for Genetic Disease

Prenatal Testing and Reproductive Genetics

Risk Calculation

Treatment of Genetic Disease

Ethical and Legal Issues in Medical Genetics

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Exam 19: Single-Gene Disorders

Which of the following is potentially the most severe aspect of Marfan syndrome?

Although anticipation has now been demonstrated for myotonic dystrophy,it was once argued that the appearance of increased severity in successive generations might have been due to which of the following?

Which of the following is a feature of the inheritance pattern of Huntington's disease?

Café-au-lait spots are a feature of what phenotype?

Neurofibromin downregulates the activity of which protein?

Which of the following is true of CFTR mutations?

In addition to the lungs,what other major organ is affected by cystic fibrosis?

Although deletions in the dystrophin gene cause both Duchenne and Becker muscular dystrophy,what feature is shared by the Becker MD-associated mutations?

The reciprocal deletion of the duplication causing hereditary and motor-sensory neuropathy is associated with what phenotype?

Which of the following mutations is associated with the myotonic dystrophy phenotype?

The History and Impact of Genetics in Medicine

The Cellular and Molecular Basis of Inheritance

Chromosomes and Cell Division

Dna Technology and Applications

Mapping and Identifying Genes for Monogenic Disorders

Developmental Genetics

Patterns of Inheritance

Population and Mathematical Genetics

Polygenic and Multifactorial Inheritance

Hemoglobin and the Hemoglobinopathies

Biochemical Genetics

Pharmacogenetics

Immunogenetics

Cancer Genetics

Genetic Factors in Common Diseases

Congenital Abnormalities and Dysmorphic Syndromes

Genetic Counseling

Chromosome Disorders

Screening for Genetic Disease

Prenatal Testing and Reproductive Genetics

Risk Calculation

Treatment of Genetic Disease

Ethical and Legal Issues in Medical Genetics

Filters