Question 1

Maternal uniparental disomy for chromosome 15 is associated with which phenotype?

Accepted Answer

A)  Prader-Willi syndrome 
B)  Angelman syndrome 
C)  Beckwith-Wiedemann syndrome 
D)  Russell-Silver syndrome 
E)  Myotonic dystrophy 
A)  Prader-Willi syndrome 
B)  Angelman syndrome 
C)  Beckwith-Wiedemann syndrome 
D)  Russell-Silver syndrome 
E)  Myotonic dystrophy A

Question 2

Traits that are observed in individuals who are heterozygous for mutations at two different loci are called…

Accepted Answer

A)  Digenic traits 
B)  Biallelic traits 
C)  Compound heterozygotes 
D)  Compound traits 
E)  Epistatic traits 
A)  Digenic traits 
B)  Biallelic traits 
C)  Compound heterozygotes 
D)  Compound traits 
E)  Epistatic traits A

Question 3

Which of the following terms is used to describe the fact that mutations in a single gene can have more than one phenotypic effect?

Accepted Answer

A)  Pleiotropy 
B)  Variable expressivity 
C)  Variable penetrance 
D)  Heteroplasmy 
E)  Mosaicism 
A)  Pleiotropy 
B)  Variable expressivity 
C)  Variable penetrance 
D)  Heteroplasmy 
E)  Mosaicism A

Question 4

Autosomal dominant inheritance for a mutation can usually be ruled out when which of the following is observed in a family?

Accepted Answer

A)  The disease skips a generation 
B)  An affected child is born to unaffected parents 
C)  Transmission from father to son 
D)  The phenotype varies between affecteds in the family 
E)  The parents of the proband are consanguineous 
A)  The disease skips a generation 
B)  An affected child is born to unaffected parents 
C)  Transmission from father to son 
D)  The phenotype varies between affecteds in the family 
E)  The parents of the proband are consanguineous

Question 5

Which modification distinguishes the maternal from the paternal allele in imprinted regions?

Accepted Answer

A)  Phosphorylation 
B)  Methylation 
C)  Glycosylation 
D)  Acetylation 
E)  Glucosylation 
A)  Phosphorylation 
B)  Methylation 
C)  Glycosylation 
D)  Acetylation 
E)  Glucosylation

Question 6

Which of the following traits may exhibit holandric inheritance?

Accepted Answer

A)  Baldness 
B)  Defects in spermatogenesis 
C)  Webbed toes 
D)  Red-green color blindness 
E)  All of the above 
A)  Baldness 
B)  Defects in spermatogenesis 
C)  Webbed toes 
D)  Red-green color blindness 
E)  All of the above

Question 7

When affected males pass a disorder to their daughters but not their sons,what is the likely pattern of inheritance?

Accepted Answer

A)  Autosomal dominant 
B)  Autosomal recessive 
C)  X-linked dominant 
D)  X-linked recessive 
E)  Y-linked 
A)  Autosomal dominant 
B)  Autosomal recessive 
C)  X-linked dominant 
D)  X-linked recessive 
E)  Y-linked

Question 8

When there is more than one mtDNA complement present in an individual,this is known as which of the following?

Accepted Answer

A)  Heteroplasmy 
B)  Multiallelism 
C)  Heterogeneity 
D)  Pleiotropy 
E)  Mitochondrial variance 
A)  Heteroplasmy 
B)  Multiallelism 
C)  Heterogeneity 
D)  Pleiotropy 
E)  Mitochondrial variance

Question 9

Which term is used to describe a disorder that occurs only in individuals of a particular sex?

Accepted Answer

A)  Sex-influenced 
B)  Y-linked 
C)  X-linked 
D)  Sex-limited 
E)  Sex-determined 
A)  Sex-influenced 
B)  Y-linked 
C)  X-linked 
D)  Sex-limited 
E)  Sex-determined

Question 10

Which of the following is the molecular explanation for genetic anticipation?

Accepted Answer

A)  Mitochondrial mutations 
B)  Heteroplasmy 
C)  Trinucleotide repeat expansions 
D)  Skewed X-inactivation 
E)  Mutational selection 
A)  Mitochondrial mutations 
B)  Heteroplasmy 
C)  Trinucleotide repeat expansions 
D)  Skewed X-inactivation 
E)  Mutational selection

Question 11

Which phenotype is associated with the same chromosome 15 region as Prader-Willi syndrome?

Accepted Answer

A)  Beckwith-Wiedemann syndrome 
B)  Russell-Silver syndrome 
C)  Angelman syndrome 
D)  Tuberous sclerosis 
E)  Turner syndrome 
A)  Beckwith-Wiedemann syndrome 
B)  Russell-Silver syndrome 
C)  Angelman syndrome 
D)  Tuberous sclerosis 
E)  Turner syndrome

Maternal uniparental disomy for chromosome 15 is associated with which phenotype?

Traits that are observed in individuals who are heterozygous for mutations at two different loci are called…

Which of the following terms is used to describe the fact that mutations in a single gene can have more than one phenotypic effect?

Autosomal dominant inheritance for a mutation can usually be ruled out when which of the following is observed in a family?

Which modification distinguishes the maternal from the paternal allele in imprinted regions?

Which of the following traits may exhibit holandric inheritance?

When affected males pass a disorder to their daughters but not their sons,what is the likely pattern of inheritance?

When there is more than one mtDNA complement present in an individual,this is known as which of the following?

Which term is used to describe a disorder that occurs only in individuals of a particular sex?

Which of the following is the molecular explanation for genetic anticipation?

Which phenotype is associated with the same chromosome 15 region as Prader-Willi syndrome?

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

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

Single-Gene 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 7: Patterns of Inheritance

Maternal uniparental disomy for chromosome 15 is associated with which phenotype?

Traits that are observed in individuals who are heterozygous for mutations at two different loci are called…

Which of the following terms is used to describe the fact that mutations in a single gene can have more than one phenotypic effect?

Autosomal dominant inheritance for a mutation can usually be ruled out when which of the following is observed in a family?

Which modification distinguishes the maternal from the paternal allele in imprinted regions?

Which of the following traits may exhibit holandric inheritance?

When affected males pass a disorder to their daughters but not their sons,what is the likely pattern of inheritance?

When there is more than one mtDNA complement present in an individual,this is known as which of the following?

Which term is used to describe a disorder that occurs only in individuals of a particular sex?

Which of the following is the molecular explanation for genetic anticipation?

Which phenotype is associated with the same chromosome 15 region as Prader-Willi syndrome?

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

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

Single-Gene Disorders

Screening for Genetic Disease

Prenatal Testing and Reproductive Genetics

Risk Calculation

Treatment of Genetic Disease

Ethical and Legal Issues in Medical Genetics

Filters