Question 1

Children with PKU must avoid phenylalanine in the diet.Phenylalanine is most likely to be a component of

Accepted Answer

A)  fat. 
B)  sugar. 
C)  protein. 
D)  carbohydrate. 
A)  fat. 
B)  sugar. 
C)  protein. 
D)  carbohydrate. C

Question 2

A point mutation

Accepted Answer

A)  results from the addition or loss of one or more bases. 
B)  is because of the translocation of a chromosomal segment. 
C)  always produces significant dysfunction. 
D)  involves the substitution of a single base pair. 
A)  results from the addition or loss of one or more bases. 
B)  is because of the translocation of a chromosomal segment. 
C)  always produces significant dysfunction. 
D)  involves the substitution of a single base pair. D

Question 3

Results of biochemical tests indicate an infant has phenylketonuria (PKU).The parents ask what PKU means.Correct responses would include all the following except PKU

Accepted Answer

A)  is an enzyme deficiency resulting in the inability to metabolize phenylalanine. 
B)  is an inborn error of metabolism. 
C)  results from a chromosome abnormality called nondisjunction. 
D)  is transmitted as an autosomal-recessive disorder. 
A)  is an enzyme deficiency resulting in the inability to metabolize phenylalanine. 
B)  is an inborn error of metabolism. 
C)  results from a chromosome abnormality called nondisjunction. 
D)  is transmitted as an autosomal-recessive disorder. C

Question 4

Huntington disease primarily affects the _____ system.

Accepted Answer

A)  neurologic 
B)  muscular 
C)  gastrointestinal 
D)  endocrine 
A)  neurologic 
B)  muscular 
C)  gastrointestinal 
D)  endocrine

Question 5

The parents of a child with PKU are concerned about the risk of transmitting the disorder in future pregnancies.The correct assessment of the risk is

Accepted Answer

A)  each child has a 25% chance of being a carrier. 
B)  each child has a 25% chance of being affected. 
C)  since one child is already affected, the next three children will be unaffected. 
D)  one cannot predict the risk for future pregnancies. 
A)  each child has a 25% chance of being a carrier. 
B)  each child has a 25% chance of being affected. 
C)  since one child is already affected, the next three children will be unaffected. 
D)  one cannot predict the risk for future pregnancies.

Question 6

Huntington disease is often transferred to offspring before a parent knows of the genetic possibility of this disease,because

Accepted Answer

A)  symptoms are so mild that they are not recognized. 
B)  symptoms often do not occur until approximately 40 years of age. 
C)  genetic testing for the disease is not possible. 
D)  the genetic alteration is rarely expressed. 
A)  symptoms are so mild that they are not recognized. 
B)  symptoms often do not occur until approximately 40 years of age. 
C)  genetic testing for the disease is not possible. 
D)  the genetic alteration is rarely expressed.

Question 7

A fetus is most vulnerable to environmental teratogens during

Accepted Answer

A)  birth. 
B)  conception. 
C)  the first trimester. 
D)  the last trimester. 
A)  birth. 
B)  conception. 
C)  the first trimester. 
D)  the last trimester.

Question 8

Cystic fibrosis is a single-gene disorder that primarily affects

Accepted Answer

A)  brain and heart. 
B)  kidney and adrenals. 
C)  lungs and pancreas. 
D)  liver and intestine. 
A)  brain and heart. 
B)  kidney and adrenals. 
C)  lungs and pancreas. 
D)  liver and intestine.

Question 9

Males are more likely than females to be affected by ________ disorders.

Accepted Answer

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

Question 10

Information parents should be given about the consequences of PKU includes

Accepted Answer

A)  high dietary phenylalanine may help induce enzyme production. 
B)  PKU is commonly associated with other congenital anomalies. 
C)  failure to avoid phenylalanine results in progressive mental retardation. 
D)  mental retardation is inevitable. 
A)  high dietary phenylalanine may help induce enzyme production. 
B)  PKU is commonly associated with other congenital anomalies. 
C)  failure to avoid phenylalanine results in progressive mental retardation. 
D)  mental retardation is inevitable.

Question 11

Characteristics of Marfan syndrome include that it (Select all that apply.)

Accepted Answer

A)  is a single-gene disorder. 
B)  involves alterations in connective tissue. 
C)  leads to skeletal and joint deformities. 
D)  leads to short stocky build. 
E)  results in dangerous cardiovascular disorders. 
A)  is a single-gene disorder. 
B)  involves alterations in connective tissue. 
C)  leads to skeletal and joint deformities. 
D)  leads to short stocky build. 
E)  results in dangerous cardiovascular disorders.

Question 12

Characteristics of X-linked (sex-linked)recessive disorders include

Accepted Answer

A)  all daughters of affected fathers' being carriers. 
B)  boys' and girls' being equally affected. 
C)  the son of a carrier female's having a 25% chance of being affected. 
D)  affected fathers' transmitting the gene to all their sons. 
A)  all daughters of affected fathers' being carriers. 
B)  boys' and girls' being equally affected. 
C)  the son of a carrier female's having a 25% chance of being affected. 
D)  affected fathers' transmitting the gene to all their sons.

Question 13

The primary factor associated with the risk of Down syndrome is

Accepted Answer

A)  family history of heritable diseases. 
B)  exposure to TORCH syndrome organisms. 
C)  maternal alcohol intake. 
D)  maternal age. 
A)  family history of heritable diseases. 
B)  exposure to TORCH syndrome organisms. 
C)  maternal alcohol intake. 
D)  maternal age.

Question 14

The risk period for maternal rubella infection leading to congenital problems begins

Accepted Answer

A)  prior to conception. 
B)  during the last trimester. 
C)  at birth. 
D)  all through pregnancy. 
A)  prior to conception. 
B)  during the last trimester. 
C)  at birth. 
D)  all through pregnancy.

Exam 6: Genetic and Developmental Disorders

Children with PKU must avoid phenylalanine in the diet.Phenylalanine is most likely to be a component of

A point mutation

Results of biochemical tests indicate an infant has phenylketonuria (PKU).The parents ask what PKU means.Correct responses would include all the following except PKU

Huntington disease primarily affects the _____ system.

The parents of a child with PKU are concerned about the risk of transmitting the disorder in future pregnancies.The correct assessment of the risk is

Huntington disease is often transferred to offspring before a parent knows of the genetic possibility of this disease,because

A fetus is most vulnerable to environmental teratogens during

Cystic fibrosis is a single-gene disorder that primarily affects

Males are more likely than females to be affected by ________ disorders.

Information parents should be given about the consequences of PKU includes

Characteristics of Marfan syndrome include that it (Select all that apply.)

Characteristics of X-linked (sex-linked)recessive disorders include

The primary factor associated with the risk of Down syndrome is

The risk period for maternal rubella infection leading to congenital problems begins

Introduction to Pathophysiology

Homeostasis, Allostasis, and Adaptive Responses to Stressors

Cell Structure and Function

Cell Injury, Aging, and Death

Genome Structure, Regulation, and Tissue Differentiation

Neoplasia

Infectious Processes

Inflammation and Immunity

Alterations in Immune Function

Malignant Disorders of White Blood Cells

HIV Disease and Aids

Alterations in Oxygen Transport

Alterations in Homeostasis and Blood Coagulation

Alterations in Blood Flow

Alterations in Blood Pressure

Cardiac Function

Alterations in Cardiac Function

Heart Failure and Dysrhythmias: Common Sequelae of Cardiac Diseases

Shock

Respiratory Function and Alterations in Gas Exchange

Obstructive Pulmonary Disorders

Restrictive Pulmonary Disorders

Fluid and Electrolyte Homeostasis and Imbalances

Acid-Base Homeostasis and Imbalances

Renal Function

Intrarenal Disorders

Acute Kidney Injury and Chronic Kidney Disease

Disorders of the Lower Urinary Tract

Male Genital and Reproductive Function

Alterations in Male Genital and Reproductive Function

Female Genital and Reproductive Function

Alterations in Female Genital and Reproductive Function

Sexually Transmitted Infections

Gastrointestinal Function

Gastrointestinal Disorders

Alterations in Function of the Gallbladder and Exocrine Pancreas

Liver Diseases

Endocrine Physiology and Mechanisms of Hypothalamic-Pituitary Regulation

Disorders of Endocrine Function

Diabetes Mellitus

Alterations in Metabolism and Nutrition

Structure and Function of the Nervous System

Acute Disorders of Brain Function

Chronic Disorders of Neurologic Function

Alterations in Special Sensory Function

Pain

Neurobiology of Psychotic Illnesses

Neurobiology of Nonpsychotic Illnesses

Structure and Function of the Musculoskeletal System

Alterations in Musculoskeletal Function: Trauma, Infection, and Disease

Alterations in Musculoskeletal Function: Rheumatic Disorders

Alterations in the Integumentary System

Burn Injuries

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