Question 1

Cystic fibrosis may present in newborns with signs of:

Accepted Answer

A)  Dehydration 
B)  Meconium peritonitis 
C)  Malabsorption 
D)  Diarrhea 
E)  Bronchiectasis 
A)  Dehydration 
B)  Meconium peritonitis 
C)  Malabsorption 
D)  Diarrhea 
E)  Bronchiectasis B

Question 2

Sudden infant death syndrome typically occurs:

Accepted Answer

A)  At the time of birth 
B)  During the first few hours after birth 
C)  During the first week after birth 
D)  During the first month of life 
E)  Any time between 2 and 9 months of the first year of life 
A)  At the time of birth 
B)  During the first few hours after birth 
C)  During the first week after birth 
D)  During the first month of life 
E)  Any time between 2 and 9 months of the first year of life E

Question 3

The X-linked bleeding disorder caused by a deficiency of factor VIII is called:

Accepted Answer

A)  Hemophilia A 
B)  Hemophilia B 
C)  Hemosiderosis 
D)  Hemochromatosis 
E)  Hemorrhagic fever 
A)  Hemophilia A 
B)  Hemophilia B 
C)  Hemosiderosis 
D)  Hemochromatosis 
E)  Hemorrhagic fever A

Question 4

The most important complication encountered in persons affected by familial hypercholesterolemia is:

Accepted Answer

A)  Xanthoma 
B)  Atherosclerosis 
C)  Fatty liver 
D)  Pancreatitis 
E)  Subluxation of the lens 
A)  Xanthoma 
B)  Atherosclerosis 
C)  Fatty liver 
D)  Pancreatitis 
E)  Subluxation of the lens

Question 5

An autosomal dominant trait is characterized by all the following except:

Accepted Answer

A)  The trait is apparent in heterozygotes 
B)  The affected heterozygote has a 50% chance of transmitting the gene to each child 
C)  The trait is expressed in every generation 
D)  The unaffected children of a symptomatic carrier do not transmit the trait 
E)  The gene accounting for the trait can be located on any of the 46 chromosomes 
A)  The trait is apparent in heterozygotes 
B)  The affected heterozygote has a 50% chance of transmitting the gene to each child 
C)  The trait is expressed in every generation 
D)  The unaffected children of a symptomatic carrier do not transmit the trait 
E)  The gene accounting for the trait can be located on any of the 46 chromosomes

Question 6

Children born with a fragile X chromosome suffer from:

Accepted Answer

A)  Muscle weakness 
B)  Blindness 
C)  Spinal cord deformities 
D)  Mental retardation 
E)  Glucose intolerance 
A)  Muscle weakness 
B)  Blindness 
C)  Spinal cord deformities 
D)  Mental retardation 
E)  Glucose intolerance

Question 7

The most important intracranial complication of the neonatal respiratory syndrome is:

Accepted Answer

A)  Hydrocephalus 
B)  Periventricular hemorrhage possibly expanding into a hematocephalus 
C)  Calcification of the basal ganglia 
D)  Kernicterus 
E)  Microcephaly 
A)  Hydrocephalus 
B)  Periventricular hemorrhage possibly expanding into a hematocephalus 
C)  Calcification of the basal ganglia 
D)  Kernicterus 
E)  Microcephaly

Question 8

A male who was tall and slightly effeminate with eunuchoid body proportions and gynecomastia was found to have a 47,XXY karyotype.These findings are typical of:

Accepted Answer

A)  Turner's syndrome 
B)  Klinefelter's syndrome 
C)  Fragile X syndrome 
D)  Marfan's syndrome 
E)  Duchenne's muscular dystrophy 
A)  Turner's syndrome 
B)  Klinefelter's syndrome 
C)  Fragile X syndrome 
D)  Marfan's syndrome 
E)  Duchenne's muscular dystrophy

Question 9

Most congenital malformations in humans are:

Accepted Answer

A)  Of unknown cause 
B)  Related to infection during pregnancy 
C)  Caused by physical agents 
D)  Caused by drugs 
E)  Caused by environmental pollution 
A)  Of unknown cause 
B)  Related to infection during pregnancy 
C)  Caused by physical agents 
D)  Caused by drugs 
E)  Caused by environmental pollution

Question 10

All the following are considered possible causes of the TORCH syndrome except:

Accepted Answer

A)  Toxoplasma 
B)  Rubella virus 
C)  Cytomegalovirus 
D)  Herpesvirus 
E)  Alcohol 
A)  Toxoplasma 
B)  Rubella virus 
C)  Cytomegalovirus 
D)  Herpesvirus 
E)  Alcohol

Question 11

Dilatation of lateral ventricles of the brain found in TORCH syndrome is called:

Accepted Answer

A)  Microphthalmia 
B)  Chorioretinitis 
C)  Hydrocephalus 
D)  Cataract 
E)  Vesicles 
A)  Microphthalmia 
B)  Chorioretinitis 
C)  Hydrocephalus 
D)  Cataract 
E)  Vesicles

Question 12

Trisomy of chromosome 21 is typical of:

Accepted Answer

A)  Turner's syndrome 
B)  Klinefelter's syndrome 
C)  Down's syndrome 
D)  WAGR (Wilms' tumor,aniridia,genital malformations,mental retardation)syndrome 
E)  Congenital retinoblastoma 
A)  Turner's syndrome 
B)  Klinefelter's syndrome 
C)  Down's syndrome 
D)  WAGR (Wilms' tumor,aniridia,genital malformations,mental retardation)syndrome 
E)  Congenital retinoblastoma

Question 13

All the following are routinely used in prenatal diagnosis except:

Accepted Answer

A)  Ultrasound 
B)  Chorionic villus biopsy 
C)  Fetal skin biopsy 
D)  Amniotic fluid analysis 
E)  Maternal blood analysis 
A)  Ultrasound 
B)  Chorionic villus biopsy 
C)  Fetal skin biopsy 
D)  Amniotic fluid analysis 
E)  Maternal blood analysis

Cystic fibrosis may present in newborns with signs of:

Sudden infant death syndrome typically occurs:

The X-linked bleeding disorder caused by a deficiency of factor VIII is called:

The most important complication encountered in persons affected by familial hypercholesterolemia is:

An autosomal dominant trait is characterized by all the following except:

Children born with a fragile X chromosome suffer from:

The most important intracranial complication of the neonatal respiratory syndrome is:

A male who was tall and slightly effeminate with eunuchoid body proportions and gynecomastia was found to have a 47,XXY karyotype.These findings are typical of:

Most congenital malformations in humans are:

All the following are considered possible causes of the TORCH syndrome except:

Dilatation of lateral ventricles of the brain found in TORCH syndrome is called:

Trisomy of chromosome 21 is typical of:

All the following are routinely used in prenatal diagnosis except:

Cell Pathology

Inflammation

Immunopathology

Neoplasia

Fluid and Hemodynamic Disorders

The Cardiovascular System

The Respiratory System

The Hematopoietic and Lymphoid Systems

The Gastrointestinal System

The Liver and Biliary System

The Pancreas

The Urinary Tract

The Male Reproductive System

The Female Reproductive System

The Breast

The Endocrine System

The Skin

Bones and Joints

Muscles

The Nervous System

The Eye

The Ear

Filters

Exam 5: Genetic and Developmental Diseases

Cystic fibrosis may present in newborns with signs of:

Sudden infant death syndrome typically occurs:

The X-linked bleeding disorder caused by a deficiency of factor VIII is called:

The most important complication encountered in persons affected by familial hypercholesterolemia is:

An autosomal dominant trait is characterized by all the following except:

Children born with a fragile X chromosome suffer from:

The most important intracranial complication of the neonatal respiratory syndrome is:

A male who was tall and slightly effeminate with eunuchoid body proportions and gynecomastia was found to have a 47,XXY karyotype.These findings are typical of:

Most congenital malformations in humans are:

All the following are considered possible causes of the TORCH syndrome except:

Dilatation of lateral ventricles of the brain found in TORCH syndrome is called:

Trisomy of chromosome 21 is typical of:

All the following are routinely used in prenatal diagnosis except:

Cell Pathology

Inflammation

Immunopathology

Neoplasia

Fluid and Hemodynamic Disorders

The Cardiovascular System

The Respiratory System

The Hematopoietic and Lymphoid Systems

The Gastrointestinal System

The Liver and Biliary System

The Pancreas

The Urinary Tract

The Male Reproductive System

The Female Reproductive System

The Breast

The Endocrine System

The Skin

Bones and Joints

Muscles

The Nervous System

The Eye

The Ear

Filters