Deck 5: Genetic and Developmental Diseases

Question 1

All the following are routinely used in prenatal diagnosis except:

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

Answer 1

Fetal skin biopsy

Question 2

Trisomy of chromosome 21 is typical of:

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

Answer 2

Down's syndrome

Question 3

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

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

Answer 3

Alcohol

Question 4

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

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

Question 5

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

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

Question 6

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

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 7

Cystic fibrosis may present in newborns with signs of:

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

Question 8

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

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

Question 9

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

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

Question 10

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:

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

Question 11

Sudden infant death syndrome typically occurs:

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

Question 12

Children born with a fragile X chromosome suffer from:

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

Question 13

Most congenital malformations in humans are:

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