Question 1

All the following are routinely used in prenatal diagnosis except:&#10;A) Ultrasound&#10;B) Chorionic villus biopsy&#10;C) Fetal skin biopsy&#10;D) Amniotic fluid analysis&#10;E) Maternal blood analysis

Accepted Answer

Fetal skin biopsy is not routinely used in prenatal diagnosis. The other options - ultrasound, chorionic villus biopsy, amniotic fluid analysis, and maternal blood analysis - are common methods used for prenatal diagnosis.

Question 2

Trisomy of chromosome 21 is typical of:&#10;A) Turner's syndrome&#10;B) Klinefelter's syndrome&#10;C) Down's syndrome&#10;D) WAGR (Wilms' tumor,aniridia,genital malformations,mental retardation)syndrome&#10;E) Congenital retinoblastoma

Accepted Answer

Trisomy of chromosome 21, or having three copies of chromosome 21 instead of two, is typical of Down's syndrome.

Question 3

All the following are considered possible causes of the TORCH syndrome except:&#10;A) Toxoplasma&#10;B) Rubella virus&#10;C) Cytomegalovirus&#10;D) Herpesvirus&#10;E) Alcohol

Accepted Answer

The acronym TORCH represents a group of infectious agents that can cause birth defects when a pregnant woman is exposed to them. The letters of TORCH stand for Toxoplasma, Rubella, Cytomegalovirus, and Herpesvirus. Alcohol is not an infectious agent and is not a cause of TORCH.

Question 4

The most important intracranial complication of the neonatal respiratory syndrome is:&#10;A) Hydrocephalus&#10;B) Periventricular hemorrhage possibly expanding into a hematocephalus&#10;C) Calcification of the basal ganglia&#10;D) Kernicterus&#10;E) Microcephaly

Accepted Answer

Periventricular hemorrhage is the most important intracranial complication of the neonatal respiratory syndrome. It can result in expansion and formation of a hematocephalus, causing permanent brain damage or death. Hydrocephalus, calcification of basal ganglia, kernicterus, and microcephaly are also potential complications but are not as commonly associated with neonatal respiratory syndrome.

Question 5

The most important complication encountered in persons affected by familial hypercholesterolemia is:&#10;A) Xanthoma&#10;B) Atherosclerosis&#10;C) Fatty liver&#10;D) Pancreatitis&#10;E) Subluxation of the lens

Accepted Answer

Familial hypercholesterolemia is a genetic disorder that results in elevated levels of low-density lipoprotein (LDL) cholesterol in the blood, leading to a higher risk of atherosclerosis, which can cause coronary heart disease, stroke, and peripheral arterial disease. Xanthomas, fatty liver, and pancreatitis can also occur in individuals with familial hypercholesterolemia, but atherosclerosis is the most serious and potentially life-threatening complication. Subluxation of the lens is not typically associated with familial hypercholesterolemia.

Question 6

An autosomal dominant trait is characterized by all the following except:&#10;A) The trait is apparent in heterozygotes&#10;B) The affected heterozygote has a 50% chance of transmitting the gene to each child&#10;C) The trait is expressed in every generation&#10;D) The unaffected children of a symptomatic carrier do not transmit the trait&#10;E) The gene accounting for the trait can be located on any of the 46 chromosomes

Accepted Answer

Autosomal dominant traits can be located on any of the 22 pairs of autosomes. Therefore, the statement "The gene accounting for the trait can be located on any of the 46 chromosomes" is true and does not characterize an autosomal dominant trait.

Question 7

Cystic fibrosis may present in newborns with signs of:&#10;A) Dehydration&#10;B) Meconium peritonitis&#10;C) Malabsorption&#10;D) Diarrhea&#10;E) Bronchiectasis

Accepted Answer

Meconium peritonitis is a common sign of cystic fibrosis in newborns. Meconium is the earliest stool of a newborn and if there is a blockage in the intestines, then meconium will leak into the peritoneal cavity, causing inflammation and infection. Meconium peritonitis is a common complication of cystic fibrosis and may require surgical intervention. While malabsorption, diarrhea, and dehydration can occur in cystic fibrosis patients, they are not specific to newborn presentation. Bronchiectasis is a structural lung disease associated with chronic infections, which may occur later in life in cystic fibrosis patients.

Question 8

The X-linked bleeding disorder caused by a deficiency of factor VIII is called:&#10;A) Hemophilia A&#10;B) Hemophilia B&#10;C) Hemosiderosis&#10;D) Hemochromatosis&#10;E) Hemorrhagic fever

Accepted Answer

Hemophilia A is the X-linked bleeding disorder caused by a deficiency of factor VIII. Hemophilia B is another X-linked bleeding disorder caused by a deficiency of factor IX. Hemosiderosis and hemochromatosis are both conditions related to iron overload, not bleeding disorders. Hemorrhagic fever refers to a group of viral infections characterized by bleeding and high fever.

Question 9

Dilatation of lateral ventricles of the brain found in TORCH syndrome is called:&#10;A) Microphthalmia&#10;B) Chorioretinitis&#10;C) Hydrocephalus&#10;D) Cataract&#10;E) Vesicles

Accepted Answer

TORCH syndrome can cause neurologic abnormalities such as hydrocephalus, which is the dilation of the lateral ventricles of the brain. Microphthalmia refers to abnormally small eyes, chorioretinitis to inflammation of the retina and choroid, cataract to clouding of the lens, and vesicles to fluid-filled sacs.

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:&#10;A) Turner's syndrome&#10;B) Klinefelter's syndrome&#10;C) Fragile X syndrome&#10;D) Marfan's syndrome&#10;E) Duchenne's muscular dystrophy

Accepted Answer

The physical characteristics described, such as gynecomastia and eunuchoid body proportions, are typical of Klinefelter's syndrome. This syndrome is caused by the presence of an extra X chromosome in males, resulting in a 47,XXY karyotype. Turner's syndrome involves the absence of an X chromosome in females, Fragile X syndrome is a genetic disorder involving a mutation in the Fragile X Mental Retardation 1 (FMR1) gene, Marfan's syndrome involves abnormalities in connective tissue, and Duchenne's muscular dystrophy is a genetic disorder resulting in progressive muscle weakness.

Question 11

Sudden infant death syndrome typically occurs:&#10;A) At the time of birth&#10;B) During the first few hours after birth&#10;C) During the first week after birth&#10;D) During the first month of life&#10;E) Any time between 2 and 9 months of the first year of life

Accepted Answer

The answer of Sudden infant death syndrome typically occurs:&#10;A) At...

Question 12

Children born with a fragile X chromosome suffer from:&#10;A) Muscle weakness&#10;B) Blindness&#10;C) Spinal cord deformities&#10;D) Mental retardation&#10;E) Glucose intolerance

Accepted Answer

The answer of Children born with a fragile X chromosome...

Question 13

Most congenital malformations in humans are:&#10;A) Of unknown cause&#10;B) Related to infection during pregnancy&#10;C) Caused by physical agents&#10;D) Caused by drugs&#10;E) Caused by environmental pollution

Accepted Answer

The answer of Most congenital malformations in humans are:&#10;A) Of...

Deck 5: Genetic and Developmental Diseases