Deck 5: Genetic and Developmental Diseases

Question 1

Children born with a small cranium and jaw,a thin upper lip,and palpebral abnormalities,and have a lower than normal IQ demonstrate classic signs of:

A) Cystic fibrosis
B) Fetal alcohol syndrome
C) Cleft lip
D) Dwarfism
E) TORCH syndrome

Answer 1

Fetal alcohol syndrome

Question 2

The agents that cause fetal abnormalities are called:

A) Trophoblasts
B) Homeobox genes
C) Organogenesis
D) Teratology
E) Teratogens

Answer 2

Teratogens

Question 3

The most important intracranial complication of neonatal respiratory syndrome is:

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

Answer 3

Periventricular hemorrhage, possibly expanding into a hematocephalus

Question 4

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

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

Question 5

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 6

All of 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

Question 7

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

Question 8

Which of the following defects associated with TORCH can cause problems in the third trimester?

A) Microcephaly
B) Microphthalmia
C) Congenital heart disease
D) Central nervous system defects
E) Macrocalcifications of the basal ganglia

Question 9

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

Question 10

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 life

Question 11

A tall,slightly effeminate male with eunuchoid body proportions and gynecomastia is found to have a 47,XXY karyotype.This presentation is typical of:

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

Question 12

A multifactorial developmental defect that occurs because of dysraphic anomaly is known as:

A) Dysencephaly
B) Spina bifida
C) Diabetes mellitus
D) Hydrocephalitis
E) Anencephaly

Question 13

Congenital rubella occurs only in which of the following situations?

A) Unimmunized mother is infected with rubella virus before conception
B) Unimmunized mother is infected with rubella virus during the first trimester
C) Unimmunized mother is infected with rubella virus during the second trimester
D) Unimmunized mother is infected with rubella virus during the third trimester
E) Baby is exposed to rubella in the first 24 to 48 hours after birth

Question 14

Which of the following is a basic feature of autosomal dominant traits?

A) The trait is apparent in homozygotes
B) The affected heterozygote has a 75% chance of transmitting the gene to each child
C) The trait is expressed in every other 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 15

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 16

Cystic fibrosis may present in newborns with signs of:

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

Question 17

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

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

Question 18

Symptoms including a wide face with low-bridged nose,closely set slanted eyes,a large tongue,short arms and legs,and low IQ are associated with:

A) Turner's syndrome
B) Klinefelter's syndrome
C) Marfan's syndrome
D) Down's syndrome
E) Fragile X syndrome

Question 19

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 20

Which congenital deficiency occurs when an inborn error of protein metabolism causes the inability to metabolize phenylalanine into tyrosine?

A) Hunter's syndrome
B) Tay-Sachs disease
C) Niemann-Pick disease
D) Gaucher's disease
E) Phenylketonuria