Question 1

Which manifestation in a teenage boy whose mother is a carrier for Fabry disease suggests the boy may have the disorder?

Accepted Answer

A) Hearing is hyperacute. 
B) Opacity is present in both eyes. 
C) Fasting blood glucose level is elevated. 
D) Growth spurt results in a height 6 inches taller than his siblings. 
A) Hearing is hyperacute. 
B) Opacity is present in both eyes. 
C) Fasting blood glucose level is elevated. 
D) Growth spurt results in a height 6 inches taller than his siblings. B

Question 2

What is the pathologic basis of Fabry disease?

Accepted Answer

A) Increased degradation of globotriaosylceramide 
B) Increased accumulation of globotriaosylceramide 
C) Deficiency in the number of liver lysosomes 
D) Excessive number of liver lysosomes 
A) Increased degradation of globotriaosylceramide 
B) Increased accumulation of globotriaosylceramide 
C) Deficiency in the number of liver lysosomes 
D) Excessive number of liver lysosomes B

Question 3

Why does a person with Hurler syndrome have an enlarged abdomen?

Accepted Answer

A) The excess mucopolysaccharides accumulate inside the lysosomes within the liver cells. 
B) The excess mucopolysaccharides accumulate inside the cells of the liver and the spleen. 
C) The excess glycosaminoglycans weaken the muscles of the abdomen, and all contents move forward. 
D) The excess glycosaminoglycans cause the person to develop type 2 diabetes, with greatly increased abdominal fat. 
A) The excess mucopolysaccharides accumulate inside the lysosomes within the liver cells. 
B) The excess mucopolysaccharides accumulate inside the cells of the liver and the spleen. 
C) The excess glycosaminoglycans weaken the muscles of the abdomen, and all contents move forward. 
D) The excess glycosaminoglycans cause the person to develop type 2 diabetes, with greatly increased abdominal fat. B

Question 4

Which statement regarding lysosomal storage diseases is true?

Accepted Answer

A) A gene defect makes lysosomes unable to store degraded compounds. 
B) Accumulation of stored iron results in cell, tissue, and organ dysfunction. 
C) Defective enzymes result in the accumulation of potentially toxic substances. 
D) Mutations in the genes coding for different types of collagen produce substances that are toxic to brain cells. 
A) A gene defect makes lysosomes unable to store degraded compounds. 
B) Accumulation of stored iron results in cell, tissue, and organ dysfunction. 
C) Defective enzymes result in the accumulation of potentially toxic substances. 
D) Mutations in the genes coding for different types of collagen produce substances that are toxic to brain cells.

Question 5

A son with osteogenesis imperfecta is born to parents with no family history of the disease. What is the most likely explanation for the son's disorder?

Accepted Answer

A) The son is not biologically related to the mother. 
B) The son is not biologically related to the father. 
C) The gamete of one parent had a spontaneous mutation. 
D) The son's DNA underwent a spontaneous mutation during the second trimester of pregnancy. 
A) The son is not biologically related to the mother. 
B) The son is not biologically related to the father. 
C) The gamete of one parent had a spontaneous mutation. 
D) The son's DNA underwent a spontaneous mutation during the second trimester of pregnancy.

Question 6

What is the expected outcome of pregnancy for women with phenylketonuria (PKU) when the blood levels of phenylalanine are high throughout the pregnancy?

Accepted Answer

A) Most births are post-mature. 
B) There is a high incidence of infertility. 
C) The infant develops PKU. 
D) There is a high incidence of cardiovascular birth defects. 
A) Most births are post-mature. 
B) There is a high incidence of infertility. 
C) The infant develops PKU. 
D) There is a high incidence of cardiovascular birth defects.

Question 7

A pair of unrelated 4-year-olds (Lester and Lucy) have mucopolysaccharidosis 1 (MPS1). Lester has severe dysmorphic features and many skeletal anomalies. Lucyhas onlymildly coarse features and slight developmental delay. What is the best explanation for these differences?

Accepted Answer

A) Skewed X inactivation allowed more paternal X expression for Lucy and more maternal X expression for Lester. 
B) Lucy's mother had better prenatal care, including good diet, exercise, and vitamins, than Lester's mother. 
C) It is likely that Lucy has been misdiagnosed and really has MPS2. 
D) The disorder has wide variability in expression of severity. 
A) Skewed X inactivation allowed more paternal X expression for Lucy and more maternal X expression for Lester. 
B) Lucy's mother had better prenatal care, including good diet, exercise, and vitamins, than Lester's mother. 
C) It is likely that Lucy has been misdiagnosed and really has MPS2. 
D) The disorder has wide variability in expression of severity.

Question 8

Which ethnic group has the highest incidence of Gaucher disease?

Accepted Answer

A) Ashkenazi Jews 
B) Asian Americans 
C) American Indians 
D) Individuals of Mediterranean descent 
A) Ashkenazi Jews 
B) Asian Americans 
C) American Indians 
D) Individuals of Mediterranean descent

Question 9

Which clinical manifestation in a 6-month-old infant is most diagnostic for Tay-Sachs disease?

Accepted Answer

A) Anemia and bruising 
B) Enlarged liver and spleen 
C) Cherry red spot on the retina 
D) Progressive cognitive impairment 
A) Anemia and bruising 
B) Enlarged liver and spleen 
C) Cherry red spot on the retina 
D) Progressive cognitive impairment

Question 10

Which ethnic group has the highest incidence of a mutation in the PAH gene?

Accepted Answer

A) Ashkenazi Jews 
B) French Canadians from the Quebec area 
C) Celts from Ireland and Scotland 
D) Africans from equatorial areas 
A) Ashkenazi Jews 
B) French Canadians from the Quebec area 
C) Celts from Ireland and Scotland 
D) Africans from equatorial areas

Question 11

Which assessment finding in a 6-month-old child suggests a possible lysosomal storage disease?

Accepted Answer

A) Enlarged, palpable liver 
B) Weight in the 95th percentile 
C) Does not yet say "mama" or "dada" 
D) Skin tone appears slightly lighter than that of either parent 
A) Enlarged, palpable liver 
B) Weight in the 95th percentile 
C) Does not yet say "mama" or "dada" 
D) Skin tone appears slightly lighter than that of either parent

Question 12

Which substance fails to form normally in individuals with Marfan syndrome?

Accepted Answer

A) Elastin 
B) Glycogen 
C) Collagen 
D) Fibrillin 
A) Elastin 
B) Glycogen 
C) Collagen 
D) Fibrillin

Question 13

What is the most common cause of death among individuals with vascular Ehlers-Danlos (Ehlers-Danlos type IV)?

Accepted Answer

A) Respiratory impairment from kyphosis 
B) Skin cancer (melanoma) 
C) Intestinal rupture 
D) Liver failure 
A) Respiratory impairment from kyphosis 
B) Skin cancer (melanoma) 
C) Intestinal rupture 
D) Liver failure

Question 14

How are the two mucopolysaccharide disorders Hurler syndrome and Hunter syndrome different?

Accepted Answer

A) Hurler syndrome is an autosomal-dominant disorder, and Hunter syndrome is autosomal recessive. 
B) Hunter syndrome is an autosomal-dominant disorder, and Hurler syndrome is autosomal recessive. 
C) Individuals with Hurler syndrome become cognitively impaired in early childhood, whereas those with Hunter syndrome often retain intellectual ability until later in life. 
D) Individuals with Hunter syndrome become cognitively impaired in early childhood, whereas those with Hurler syndrome often retain intellectual ability until later in life. 
A) Hurler syndrome is an autosomal-dominant disorder, and Hunter syndrome is autosomal recessive. 
B) Hunter syndrome is an autosomal-dominant disorder, and Hurler syndrome is autosomal recessive. 
C) Individuals with Hurler syndrome become cognitively impaired in early childhood, whereas those with Hunter syndrome often retain intellectual ability until later in life. 
D) Individuals with Hunter syndrome become cognitively impaired in early childhood, whereas those with Hurler syndrome often retain intellectual ability until later in life.

Question 15

For which disorder is the drug idursulfase (Elaprase) appropriate for enzyme-replacement therapy?

Accepted Answer

A) Hurler syndrome 
B) Hunter syndrome 
C) Gaucher type 2 
D) Tay-Sachs disease 
A) Hurler syndrome 
B) Hunter syndrome 
C) Gaucher type 2 
D) Tay-Sachs disease

Question 16

Which action or behavior is considered an "executive function"?

Accepted Answer

A) Hopping on one foot 
B) Learning the names of animals 
C) Deciding what to give as a present 
D) Counting the number of objects in a picture 
A) Hopping on one foot 
B) Learning the names of animals 
C) Deciding what to give as a present 
D) Counting the number of objects in a picture

Question 17

Why does a newborn with a genetic enzyme deficiency have a normal phenotype at birth?

Accepted Answer

A) Metabolism during prenatal life is too slow to require full enzyme activity. 
B) The deficient enzyme's activity was performed by maternal enzymes before birth. 
C) During the fetal phase of life, the newborn was not exposed to the protein that the enzyme is responsible for degrading. 
D) Although the newborn cannot synthesize the enzyme after birth, the initially stored enzyme performs its functions until the level is fully depleted. 
A) Metabolism during prenatal life is too slow to require full enzyme activity. 
B) The deficient enzyme's activity was performed by maternal enzymes before birth. 
C) During the fetal phase of life, the newborn was not exposed to the protein that the enzyme is responsible for degrading. 
D) Although the newborn cannot synthesize the enzyme after birth, the initially stored enzyme performs its functions until the level is fully depleted.

Question 18

Which manifestation is most common among individuals with osteogenesis imperfecta type I?

Accepted Answer

A) Short stature 
B) Premature birth 
C) Skull deformities 
D) Blue-tinged sclerae 
A) Short stature 
B) Premature birth 
C) Skull deformities 
D) Blue-tinged sclerae

Question 19

Which health problem could be expected as a result of a gene mutation that affects the correct production and function of type 1 collagen?

Accepted Answer

A) Failure of blood to clot after minor trauma 
B) Increased incidence of arterial and venous aneurysms 
C) Increased incidence of hearing loss among children and adults 
D) Restrictive lung disease from excessive stiffening of alveolar walls 
A) Failure of blood to clot after minor trauma 
B) Increased incidence of arterial and venous aneurysms 
C) Increased incidence of hearing loss among children and adults 
D) Restrictive lung disease from excessive stiffening of alveolar walls

Question 20

The mother of a teenager recently diagnosed with osteogenesis imperfecta type I (OI) asks if the problem is related to the fact that she adhered to a vegetarian diet during pregnancy. What is the most appropriate response?

Accepted Answer

A) Your diet is not related to this disease because it is an inherited disorder. 
B) Although this problem can be inherited, low calcium levels are a major cause. 
C) That is one possibility, especially because collagen requires proteins to form. 
D) More likely, it is related to the fact that you were older than 35 years of age when you became pregnant. 
A) Your diet is not related to this disease because it is an inherited disorder. 
B) Although this problem can be inherited, low calcium levels are a major cause. 
C) That is one possibility, especially because collagen requires proteins to form. 
D) More likely, it is related to the fact that you were older than 35 years of age when you became pregnant.

Which manifestation in a teenage boy whose mother is a carrier for Fabry disease suggests the boy may have the disorder?

What is the pathologic basis of Fabry disease?

Why does a person with Hurler syndrome have an enlarged abdomen?

Which statement regarding lysosomal storage diseases is true?

A son with osteogenesis imperfecta is born to parents with no family history of the disease. What is the most likely explanation for the son's disorder?

What is the expected outcome of pregnancy for women with phenylketonuria (PKU) when the blood levels of phenylalanine are high throughout the pregnancy?

A pair of unrelated 4-year-olds (Lester and Lucy) have mucopolysaccharidosis 1 (MPS1). Lester has severe dysmorphic features and many skeletal anomalies. Lucyhas onlymildly coarse features and slight developmental delay. What is the best explanation for these differences?

Which ethnic group has the highest incidence of Gaucher disease?

Which clinical manifestation in a 6-month-old infant is most diagnostic for Tay-Sachs disease?

Which ethnic group has the highest incidence of a mutation in the PAH gene?

Which assessment finding in a 6-month-old child suggests a possible lysosomal storage disease?

Which substance fails to form normally in individuals with Marfan syndrome?

What is the most common cause of death among individuals with vascular Ehlers-Danlos (Ehlers-Danlos type IV)?

How are the two mucopolysaccharide disorders Hurler syndrome and Hunter syndrome different?

For which disorder is the drug idursulfase (Elaprase) appropriate for enzyme-replacement therapy?

Which action or behavior is considered an "executive function"?

Why does a newborn with a genetic enzyme deficiency have a normal phenotype at birth?

Which manifestation is most common among individuals with osteogenesis imperfecta type I?

Which health problem could be expected as a result of a gene mutation that affects the correct production and function of type 1 collagen?

The mother of a teenager recently diagnosed with osteogenesis imperfecta type I (OI) asks if the problem is related to the fact that she adhered to a vegetarian diet during pregnancy. What is the most appropriate response?

DNA Structure and Function

Protein Synthesis

Genetic Influence on Cell Division, Differentiation, and Gametogenesis

Patterns of Inheritance

Epigenetic Influences on Gene Expression

Autosomal Inheritance and Disorders

Sex Chromosome and Mitochondrial Inheritance and Disorders

Family History and Pedigree Construction

Congenital Anomalies, Basic Dysmorphology, and Genetic Assessment

Common Childhood-Onset Genetic Disorders

Common Adult-Onset Disorders

Cardiovascular Disorders

The Genetics of Cancer

Genetic Contributions to Psychiatric and Behavioral Disorders

Genetic and Genomic Testing

Assessing Genomic Variation in Drug Response

Health Professionals and Genomic Care

Financial, Ethical, Legal, and Social Considerations

Genetic and Genomic Variation

Filters

Exam 10: Enzyme and Collagen Disorders

Which manifestation in a teenage boy whose mother is a carrier for Fabry disease suggests the boy may have the disorder?

What is the pathologic basis of Fabry disease?

Why does a person with Hurler syndrome have an enlarged abdomen?

Which statement regarding lysosomal storage diseases is true?

A son with osteogenesis imperfecta is born to parents with no family history of the disease. What is the most likely explanation for the son's disorder?

What is the expected outcome of pregnancy for women with phenylketonuria (PKU) when the blood levels of phenylalanine are high throughout the pregnancy?

A pair of unrelated 4-year-olds (Lester and Lucy) have mucopolysaccharidosis 1 (MPS1). Lester has severe dysmorphic features and many skeletal anomalies. Lucyhas onlymildly coarse features and slight developmental delay. What is the best explanation for these differences?

Which ethnic group has the highest incidence of Gaucher disease?

Which clinical manifestation in a 6-month-old infant is most diagnostic for Tay-Sachs disease?

Which ethnic group has the highest incidence of a mutation in the PAH gene?

Which assessment finding in a 6-month-old child suggests a possible lysosomal storage disease?

Which substance fails to form normally in individuals with Marfan syndrome?

What is the most common cause of death among individuals with vascular Ehlers-Danlos (Ehlers-Danlos type IV)?

How are the two mucopolysaccharide disorders Hurler syndrome and Hunter syndrome different?

For which disorder is the drug idursulfase (Elaprase) appropriate for enzyme-replacement therapy?

Which action or behavior is considered an "executive function"?

Why does a newborn with a genetic enzyme deficiency have a normal phenotype at birth?

Which manifestation is most common among individuals with osteogenesis imperfecta type I?

Which health problem could be expected as a result of a gene mutation that affects the correct production and function of type 1 collagen?

The mother of a teenager recently diagnosed with osteogenesis imperfecta type I (OI) asks if the problem is related to the fact that she adhered to a vegetarian diet during pregnancy. What is the most appropriate response?

DNA Structure and Function

Protein Synthesis

Genetic Influence on Cell Division, Differentiation, and Gametogenesis

Patterns of Inheritance

Epigenetic Influences on Gene Expression

Autosomal Inheritance and Disorders

Sex Chromosome and Mitochondrial Inheritance and Disorders

Family History and Pedigree Construction

Congenital Anomalies, Basic Dysmorphology, and Genetic Assessment

Common Childhood-Onset Genetic Disorders

Common Adult-Onset Disorders

Cardiovascular Disorders

The Genetics of Cancer

Genetic Contributions to Psychiatric and Behavioral Disorders

Genetic and Genomic Testing

Assessing Genomic Variation in Drug Response

Health Professionals and Genomic Care

Financial, Ethical, Legal, and Social Considerations

Genetic and Genomic Variation

Filters