Question 1

What is an additional concern with complete hydatidiform moles that is not associated with partial moles?

Accepted Answer

A)  Risk of severe developmental issues in the fetus 
B)  Malignancy 
C)  Loss of fertility 
D)  Imprinting defects 
E)  Later endometriosis 
A)  Risk of severe developmental issues in the fetus 
B)  Malignancy 
C)  Loss of fertility 
D)  Imprinting defects 
E)  Later endometriosis B

Question 2

Which of the following is a phenotype associated with mutations in the sonic hedgehog signaling pathway?

Accepted Answer

A)  Holoprosencephaly 
B)  Osteogenesis imperfecta 
C)  Primary sex reversal 
D)  Spina bifida 
E)  All of the above 
A)  Holoprosencephaly 
B)  Osteogenesis imperfecta 
C)  Primary sex reversal 
D)  Spina bifida 
E)  All of the above A

Question 3

Proteins that contain a zinc finger motif share what function?

Accepted Answer

A)  Kinase 
B)  Phosphatase 
C)  Protease 
D)  Transcription factor 
E)  Inducers of apoptosis 
A)  Kinase 
B)  Phosphatase 
C)  Protease 
D)  Transcription factor 
E)  Inducers of apoptosis D

Question 4

Which of the following are true of DNA methylation during reproduction?

Accepted Answer

A)  The sperm and egg DNA maintain their methylation patterns throughout gametogenesis 
B)  The sperm and egg DNA maintain their methylation patterns in the embryo 
C)  Methylation patterns in both the egg and sperm DNA are erased at fertilization and re-established in a single wave 
D)  Only the sperm DNA loses its methylation pattern after fertilization 
E)  A series of methylation and demethylation events occurs during gametogenesis, fertilization, and implantation in both gametes 
A)  The sperm and egg DNA maintain their methylation patterns throughout gametogenesis 
B)  The sperm and egg DNA maintain their methylation patterns in the embryo 
C)  Methylation patterns in both the egg and sperm DNA are erased at fertilization and re-established in a single wave 
D)  Only the sperm DNA loses its methylation pattern after fertilization 
E)  A series of methylation and demethylation events occurs during gametogenesis, fertilization, and implantation in both gametes

Question 5

How many Barr bodies does somebody with a 47,XXY karyotype have?

Accepted Answer

A)  0 
B)  1 
C)  2 
D)  3 
E)  More information is needed 
A)  0 
B)  1 
C)  2 
D)  3 
E)  More information is needed

Question 6

Which of the following types of developmental disorders are associated with mutations in the fibroblast growth factor receptor family?

Accepted Answer

A)  Congenital heart defects 
B)  Holoprosencephaly 
C)  Achondroplasias 
D)  Defects in ocular development 
E)  Defects in pigmentation 
A)  Congenital heart defects 
B)  Holoprosencephaly 
C)  Achondroplasias 
D)  Defects in ocular development 
E)  Defects in pigmentation

Question 7

Proteins that are involved in developmental regulation are also commonly involved in what phenotype?

Accepted Answer

A)  Deafness 
B)  Cancer 
C)  Ataxia 
D)  Neurodegeneration 
E)  Premature aging 
A)  Deafness 
B)  Cancer 
C)  Ataxia 
D)  Neurodegeneration 
E)  Premature aging

Question 8

Which of the following chromosomal constitutions would be associated with a male phenotype?

Accepted Answer

A)  45,X 
B)  47,XXY 
C)  47,XYY 
D)  A and B 
E)  B and C 
A)  45,X 
B)  47,XXY 
C)  47,XYY 
D)  A and B 
E)  B and C

Question 9

An infertile female is found to have a 46,XY karyotype.Within which region is she likely to have a mutation or deletion?

Accepted Answer

A)  Pseudoautosomal region 
B)  SRY 
C)  XIST 
D)  One of the AZF regions 
E)  DAZ 
A)  Pseudoautosomal region 
B)  SRY 
C)  XIST 
D)  One of the AZF regions 
E)  DAZ

What is an additional concern with complete hydatidiform moles that is not associated with partial moles?

Which of the following is a phenotype associated with mutations in the sonic hedgehog signaling pathway?

Proteins that contain a zinc finger motif share what function?

Which of the following are true of DNA methylation during reproduction?

How many Barr bodies does somebody with a 47,XXY karyotype have?

Which of the following types of developmental disorders are associated with mutations in the fibroblast growth factor receptor family?

Proteins that are involved in developmental regulation are also commonly involved in what phenotype?

Which of the following chromosomal constitutions would be associated with a male phenotype?

An infertile female is found to have a 46,XY karyotype.Within which region is she likely to have a mutation or deletion?

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

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

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 6: Developmental Genetics

What is an additional concern with complete hydatidiform moles that is not associated with partial moles?

Which of the following is a phenotype associated with mutations in the sonic hedgehog signaling pathway?

Proteins that contain a zinc finger motif share what function?

Which of the following are true of DNA methylation during reproduction?

How many Barr bodies does somebody with a 47,XXY karyotype have?

Which of the following types of developmental disorders are associated with mutations in the fibroblast growth factor receptor family?

Proteins that are involved in developmental regulation are also commonly involved in what phenotype?

Which of the following chromosomal constitutions would be associated with a male phenotype?

An infertile female is found to have a 46,XY karyotype.Within which region is she likely to have a mutation or deletion?

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

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

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