Question 1

The most clinically useful technique for prenatal diagnosis of chromosomal abnormalities at 3 months' (12 weeks')gestation is:

Accepted Answer

A)  Gene mapping 
B)  Linkage analysis 
C)  Amniocentesis 
D)  Chorionic villus sampling 
A)  Gene mapping 
B)  Linkage analysis 
C)  Amniocentesis 
D)  Chorionic villus sampling

Question 2

Match the genetic terms with the corresponding diseases.Terms may 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 3

The purpose of a staining technique of chromosomes such as Giemsa is to:

Accepted Answer

A)  Permit the mitotic process to be followed and monitored for variations. 
B)  Allow for the numbering of chromosomes and the identification of variations. 
C)  Identify new somatic cells formed through mitosis and cytokinesis. 
D)  Distinguish the sex chromosomes from the homologous chromosomes. 
A)  Permit the mitotic process to be followed and monitored for variations. 
B)  Allow for the numbering of chromosomes and the identification of variations. 
C)  Identify new somatic cells formed through mitosis and cytokinesis. 
D)  Distinguish the sex chromosomes from the homologous chromosomes.

Question 4

Males are more often affected by which type of genetic disease?

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 5

Match the genetic terms with the corresponding diseases.Terms may be used more than once.
-Sickle cell disease

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 6

Consanguinity refers to the mating of persons:

Accepted Answer

A)  Who are unrelated 
B)  When one has an autosomal dominant disorder 
C)  Having common family relations 
D)  When one has a chromosomal abnormality 
A)  Who are unrelated 
B)  When one has an autosomal dominant disorder 
C)  Having common family relations 
D)  When one has a chromosomal abnormality

Question 7

What is the second most commonly recognized genetic cause of mental retardation?

Accepted Answer

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

Question 8

Transcription is best defined as a process by which:

Accepted Answer

A)  DNA polymerase binds to the promoter site on ribonucleic acid (RN
A) . 
B)  RNA directs the synthesis of polypeptides for protein synthesis. 
C)  RNA is synthesized from a DNA template. 
D)  A base pair substitution results in a mutation of the amino acid sequence. 
A)  DNA polymerase binds to the promoter site on ribonucleic acid (RN
A) . 
B)  RNA directs the synthesis of polypeptides for protein synthesis. 
C)  RNA is synthesized from a DNA template. 
D)  A base pair substitution results in a mutation of the amino acid sequence.

Question 9

Which disorders have similar modes of inheritance? (Select all that apply.)

Accepted Answer

A)  Cri du chat syndrome 
B)  Duchenne muscular dystrophy 
C)  Polycystic kidney disease 
D)  Down syndrome 
E)  Becker muscular dystrophy 
A)  Cri du chat syndrome 
B)  Duchenne muscular dystrophy 
C)  Polycystic kidney disease 
D)  Down syndrome 
E)  Becker muscular dystrophy

Question 10

A child with which genetic disorder has a characteristic cry?

Accepted Answer

A)  Down syndrome 
B)  Klinefelter syndrome 
C)  Turner syndrome 
D)  Cri du chat 
A)  Down syndrome 
B)  Klinefelter syndrome 
C)  Turner syndrome 
D)  Cri du chat

Question 11

Inserting bone marrow cells into an individual who produces abnormal erythrocytes is an example of what type of therapy?

Accepted Answer

A)  Somatic cell 
B)  Germ cell 
C)  Genetic engineering 
D)  Recombinant DNA 
A)  Somatic cell 
B)  Germ cell 
C)  Genetic engineering 
D)  Recombinant DNA

Question 12

Which statement is true regarding X-linked recessive conditions?

Accepted Answer

A)  Such diseases use males as phenotypical carriers. 
B)  These conditions are passed from affected father to all of his female children. 
C)  25% of an affected individual's grandsons will be affected. 
D)  Cystic fibrosis is an example of such a condition. 
A)  Such diseases use males as phenotypical carriers. 
B)  These conditions are passed from affected father to all of his female children. 
C)  25% of an affected individual's grandsons will be affected. 
D)  Cystic fibrosis is an example of such a condition.

Question 13

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

Question 14

What is the chromosomal variation that causes Klinefelter syndrome?

Accepted Answer

A)  Nondisjunction of the X chromosome in the father 
B)  Translocation of the X chromosome in the mother 
C)  Nondisjunction of X chromosome in the mother 
D)  Translocation of the Y chromosome in the father 
A)  Nondisjunction of the X chromosome in the father 
B)  Translocation of the X chromosome in the mother 
C)  Nondisjunction of X chromosome in the mother 
D)  Translocation of the Y chromosome in the father

Question 15

The advantage derived from human genome sequencing on genetic disorders focuses on: (Select all that apply.)

Accepted Answer

A)  Identification of the mutated gene 
B)  Reversal of the mutation 
C)  Diagnosis of the existing disorder 
D)  Appropriate treatment 
E)  Prevention of the disorder 
A)  Identification of the mutated gene 
B)  Reversal of the mutation 
C)  Diagnosis of the existing disorder 
D)  Appropriate treatment 
E)  Prevention of the disorder

Question 16

Match the genetic terms with the corresponding diseases.Terms may 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 17

DNA formation occurs in which of the cell's structures?

Accepted Answer

A)  Nucleus 
B)  Cytoplasm 
C)  Organelle 
D)  Membrane 
A)  Nucleus 
B)  Cytoplasm 
C)  Organelle 
D)  Membrane

Question 18

People diagnosed with neurofibromatosis have varying degrees 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 19

Cystic fibrosis is caused by what type of 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 20

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

Exam 4: Genes and Genetic Diseases

The most clinically useful technique for prenatal diagnosis of chromosomal abnormalities at 3 months' (12 weeks')gestation is:

Match the genetic terms with the corresponding diseases.Terms may be used more than once. -Duchenne muscular dystrophy

The purpose of a staining technique of chromosomes such as Giemsa is to:

Males are more often affected by which type of genetic disease?

Match the genetic terms with the corresponding diseases.Terms may be used more than once. -Sickle cell disease

Consanguinity refers to the mating of persons:

What is the second most commonly recognized genetic cause of mental retardation?

Transcription is best defined as a process by which:

Which disorders have similar modes of inheritance? (Select all that apply.)

A child with which genetic disorder has a characteristic cry?

Inserting bone marrow cells into an individual who produces abnormal erythrocytes is an example of what type of therapy?

Which statement is true regarding X-linked recessive conditions?

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

What is the chromosomal variation that causes Klinefelter syndrome?

The advantage derived from human genome sequencing on genetic disorders focuses on: (Select all that apply.)

Match the genetic terms with the corresponding diseases.Terms may be used more than once. -Cystic fibrosis

DNA formation occurs in which of the cell's structures?

People diagnosed with neurofibromatosis have varying degrees of the condition because of the genetic principle of:

Cystic fibrosis is caused by what type of gene?

What is the most common cause of Down syndrome?

Cellular Biology

Altered Cellular and Tissue Biology

The Cellular Environment: Fluids and Electrolytes, Acids and Bases

Genes, Environment-Lifestyle, and Common Diseases

Epigenetics and Disease

Innate Immunity: Inflammation

Adaptive Immunity

Alterations in Immunity and Inflammation

Infection

Stress and Disease

Cancer Biology

Cancer Epidemiology

Cancer in Children

Structure and Function of the Neurologic System

Pain, Temperature Regulation, Sleep, and Sensory Function

Alterations in Cognitive Systems,Cerebral Hemodynamics,and Motor Function

Disorders of the Central and Peripheral Nervous Systems and the Neuromuscular Junction

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 Female Reproductive System

Alterations of the Male Reproductive System

Sexually Transmitted Infections

Structure and Function of the Hematologic System

Alterations of Erythrocyte Function

Alterations of Leukocyte, Lymphoid, and Hemostatic Function

Alterations of 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

Alterations of Pulmonary Function in Children

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

Filters