Question 1

A boy,9 years of age,is admitted to the pediatric ward with hemophiliaA.He inherited this condition through a ___________ trait

Accepted Answer

A)  sex-linked dominant 
B)  sex-influenced 
C)  sex-linked 
D)  sex-linked recessive 
A)  sex-linked dominant 
B)  sex-influenced 
C)  sex-linked 
D)  sex-linked recessive

Question 2

Which is an important criterion for discerning autosomal recessive inheritance?

Accepted Answer

A)  Consanuinity is often present. 
B)  Females are affected more than males. 
C)  The disease is seen in the parents and in the siblings. 
D)  On average,one half of the offspring of the carrier will be affected. 
A)  Consanuinity is often present. 
B)  Females are affected more than males. 
C)  The disease is seen in the parents and in the siblings. 
D)  On average,one half of the offspring of the carrier will be affected.

Question 3

What is the blood type of a person who is heterozygous,having A and B alleles as codominant?

Accepted Answer

A)  Type A 
B)  Type B 
C)  Type O 
D)  Type AB 
A)  Type A 
B)  Type B 
C)  Type O 
D)  Type AB

Question 4

Chromosome abnormalities are the leading cause of mental retardation and miscarriages.

Accepted Answer

A) True 
 B)False

Question 5

What is the term for an error in which homologous chromosomes fail to separate during meiosis or mitosis?

Accepted Answer

A)  Aneuploidy 
B)  Nondisjunction 
C)  Polyploidy 
D)  Translocation 
A)  Aneuploidy 
B)  Nondisjunction 
C)  Polyploidy 
D)  Translocation

Question 6

The key to accurate DNA replication is complementary base pairing.

Accepted Answer

A) True 
 B)False

Question 7

What datum from an amniocentesis indicates a neural tube defect?

Accepted Answer

A)  An increase in chorionic protein 
B)  An increase in alpha-fetoprotein 
C)  An increase in amnionic protein 
D)  An increase in embryonic protein 
A)  An increase in chorionic protein 
B)  An increase in alpha-fetoprotein 
C)  An increase in amnionic protein 
D)  An increase in embryonic protein

Question 8

Match the disease with its chromosomal abnormality.
-Zygote has one chromosome with the normal complement of genes and one with a missing gene

Accepted Answer

A) Down Syndrome 
B) Fragile X syndrome 
C) Klinefelter syndrome 
D) Turner syndrome 
E) Cri du chat 
A) Down Syndrome 
B) Fragile X syndrome 
C) Klinefelter syndrome 
D) Turner syndrome 
E) Cri du chat

Question 9

People who have neurofibromatosis have a varying degree of the condition because of the genetic principle of:

Accepted Answer

A)  penetrance. 
B)  expressivity. 
C)  dominance. 
D)  recessiveness. 
A)  penetrance. 
B)  expressivity. 
C)  dominance. 
D)  recessiveness.

Question 10

Consanguinity refers to the mating of:

Accepted Answer

A)  two unrelated individuals. 
B)  persons when one has an autosomal dominant disorder. 
C)  persons having a common parent. 
D)  persons when one has a chromosomal abnormality. 
A)  two unrelated individuals. 
B)  persons when one has an autosomal dominant disorder. 
C)  persons having a common parent. 
D)  persons when one has a chromosomal abnormality.

Question 11

Cystic fibrosis is caused by an _____ gene.

Accepted Answer

A)  X-linked dominant 
B)  X-linked recessive 
C)  autosomal dominant 
D)  autosomal recessive 
A)  X-linked dominant 
B)  X-linked recessive 
C)  autosomal dominant 
D)  autosomal recessive

Question 12

MATCHING
Match the genetic terms with the corresponding diseases.(Terms can be used more than once. )
-Duchenne muscular dystrophy

Accepted Answer

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

Question 13

What is the most common cause of Down syndrome?

Accepted Answer

A)  Paternal nondisjunction 
B)  Maternal translocations 
C)  Maternal nondisjunction 
D)  Paternal translocation 
A)  Paternal nondisjunction 
B)  Maternal translocations 
C)  Maternal nondisjunction 
D)  Paternal translocation

Question 14

Which genetic diseases have been linked to a mutation of the tumor suppressor gene?

Accepted Answer

A)  Huntington disease and hemochromatosis 
B)  Retinoblastoma and type 1 neurofibromatosis 
C)  Familial breast cancer and polycystic kidney disease 
D)  Hemophilia A and leukemia 
A)  Huntington disease and hemochromatosis 
B)  Retinoblastoma and type 1 neurofibromatosis 
C)  Familial breast cancer and polycystic kidney disease 
D)  Hemophilia A and leukemia

Question 15

A person with XXXY has the genetic disorder called __________ syndrome.

Accepted Answer

A)  Turner 
B)  Klinefelter 
C)  Down 
D)  Fragile X 
A)  Turner 
B)  Klinefelter 
C)  Down 
D)  Fragile X

Question 16

MATCHING
Match the genetic terms with the corresponding diseases.(Terms can be used more than once. )
-Hemophilia

Accepted Answer

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

Question 17

MATCHING
Match the genetic terms with the corresponding diseases.(Terms can be used more than once. )
-Cystic fibrosis

Accepted Answer

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

Question 18

What is the purpose of a staining technique of chromosomes such as Giemsa?

Accepted Answer

A)  To allow the mitotic process to be followed and monitored for variations 
B)  To allow the numbering of chromosomes and identification of variations 
C)  To identify new somatic cells formed through mitosis and cytokinesis 
D)  To distinguish the sex chromosome from the homologous chromosomes 
A)  To allow the mitotic process to be followed and monitored for variations 
B)  To allow the numbering of chromosomes and identification of variations 
C)  To identify new somatic cells formed through mitosis and cytokinesis 
D)  To distinguish the sex chromosome from the homologous chromosomes

Question 19

For which women would an amniocentesis be recommended?

Accepted Answer

A)  For all pregnant women 
B)  For pregnant women who have a family history of certain genetic disorders 
C)  For pregnant women who are over 40 years of age 
D)  For pregnant women who had a late menarche 
A)  For all pregnant women 
B)  For pregnant women who have a family history of certain genetic disorders 
C)  For pregnant women who are over 40 years of age 
D)  For pregnant women who had a late menarche

Question 20

Which clinical manifestations would be expected for a child who has complete trisomy of the twenty-first chromosome?

Accepted Answer

A)  Widely spaced nipples,reduced carrying angle at the elbow,and sparse body hair 
B)  An IQ of 25 to 70,low nasal bridge,protruding tongue,and flat,low-set ears 
C)  High-pitched voice,tall stature,gynecomastia,and an IQ of 60 to 90 
D)  Circumoral cyanosis,edema of the feet,short stature,and mental slowness 
A)  Widely spaced nipples,reduced carrying angle at the elbow,and sparse body hair 
B)  An IQ of 25 to 70,low nasal bridge,protruding tongue,and flat,low-set ears 
C)  High-pitched voice,tall stature,gynecomastia,and an IQ of 60 to 90 
D)  Circumoral cyanosis,edema of the feet,short stature,and mental slowness

Exam 4: Genes and Genetic Diseases

A boy,9 years of age,is admitted to the pediatric ward with hemophiliaA.He inherited this condition through a ___________ trait

Which is an important criterion for discerning autosomal recessive inheritance?

What is the blood type of a person who is heterozygous,having A and B alleles as codominant?

Chromosome abnormalities are the leading cause of mental retardation and miscarriages.

What is the term for an error in which homologous chromosomes fail to separate during meiosis or mitosis?

The key to accurate DNA replication is complementary base pairing.

What datum from an amniocentesis indicates a neural tube defect?

Match the disease with its chromosomal abnormality. -Zygote has one chromosome with the normal complement of genes and one with a missing gene

People who have neurofibromatosis have a varying degree of the condition because of the genetic principle of:

Consanguinity refers to the mating of:

Cystic fibrosis is caused by an _____ gene.

MATCHING Match the genetic terms with the corresponding diseases.(Terms can be used more than once. ) -Duchenne muscular dystrophy

What is the most common cause of Down syndrome?

Which genetic diseases have been linked to a mutation of the tumor suppressor gene?

A person with XXXY has the genetic disorder called __________ syndrome.

MATCHING Match the genetic terms with the corresponding diseases.(Terms can be used more than once. ) -Hemophilia

MATCHING Match the genetic terms with the corresponding diseases.(Terms can be used more than once. ) -Cystic fibrosis

What is the purpose of a staining technique of chromosomes such as Giemsa?

For which women would an amniocentesis be recommended?

Which clinical manifestations would be expected for a child who has complete trisomy of the twenty-first chromosome?

Cellular Biology

Altered Cellular and Tissue Biology

The Cellular Environment

Genes, Environment-Lifestyle, and Common Diseases

Innate Immunity Including Inflammation

Adaptive Immunity

Alterations in Immunity and Inflammation Including Hypersensitivies

Infection Including Hivaids

Stress and Disease

Biology of Cancer

Tumor Invasion and Metastasis

Cancer in Children

Structure and Function of the Neurologic System

Pain, Temperature Regulation, Sleep, and Sensory Function

Concepts of Neurologic Dysfunction

Disorders of Neurologic Function

Neurobiology of Schizophrenia, Mood Disorders, and Anxiety Disorders

Alterations of Neurologic Function in Children

Mechanisms of Hormonal Regulation

Alterations of Hormonal Regulation

Structure and Function of the Reproductive Systems

Alterations of the Reproductive Systems

Sexually Transmitted Infections

Structure and Function of the Hematologic System

Alterations of Erythrocyte Function

Alterations in Hematologic Function in Children

Structure and Function of the Cardiovascular and Lymphatic Systems

Alterations of Cardiovascular Function

Alterations of Cardiovascular Function in Children

Structure and Function of the Pulmonary System

Alterations of Pulmonary Function

Structure and Function of the Renal and Urologic Systems

Alterations of Renal and Urinary Tract Function

Alterations of Renal and Urinary Tract Function in Children

Structure and Function of the Digestive System

Alterations of Digestive Function

Alterations of Digestive Function in Children

Structure and Function of the Musculoskeletal System

Alterations of Musculoskeletal Function

Alterations of Musculoskeletal Function in Children

Structure, Function, and Disorders of the Integument

Alterations of the Integument in Children

Shock, Multiple Organ Dysfunction Syndrome, and Burns in Adults

Shock, Multiple Organ Dysfunction Syndrome, and Burns in Children

Alterations of Leukocyte, Lymphoid, and Hemostatic Function

Alterations of Pulmonary Function in Children

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