Chromosomal Abnormalities

Question 1

Enzyme deficiency that can lead to cirrhosis of the liver and emphysema and degenerative disease in middle age.

Answer 1

Alpha, Antitrypsin deficiency (chromosome 14)

Question 2

Severe anemia that reduces the ability of the blood to carry oxygen; nearly all affected infants are stillborn or die soon after birth.

Answer 2

Alpha Thalassemia (chromosome 16)

Question 3

Severe anemia resulting in weakness , fatigue and frequent illness; usually fatal in adolescence or young adulthood.

Answer 3

Beta Thalassemia (Cooley’s anemia) (chromosome 11)

Question 4

Overproduction of mucus, which collects in the lung and digestive tract; children do not grow normally and usually do not live beyond age 30; the most common inherited lethal defect among white people.

Answer 4

Cystic Fibrosis (chromosome 7)

Question 5

Fatal disease that is usually found in males, marked by muscle weakness; minor mental retardation is common; respiratory failure and death usually occur in young adulthood.

Answer 5

Duchenne Muscular Dystrophy (X sex chromosome)

Question 6

Excessive bleeding; usually affecting males; in its most severe form, can lead to crippling arthritis in adulthood.

Answer 6

Hemophilia (X sex chromosome)

Question 7

Absence of brain tissues; infants ate stillborn or die soon after death.

Answer 7

Anencephaly

Question 8

Incompletely closed spinal canal, resulting in muscle weakness or paralysis and loss of bladder and bowel control; often accompanied by hydrocephalus, an accumulation of spinal fluid in the brain, which can lead to mental retardation.

Answer 8

Spina Bifida (chromosome 11)

Question 9

Metabolic disorder resulting in mental retardation.

Answer 9

Phenylketonuria (PKU)

Question 10

Infantile form: Enlarged kidneys, leading to respiratory problems and congestive heart failure.
Adult form: Kidney pain, kidney stones and hypertension resulting in chronic kidney failure.

Answer 10

Polycystic Kidney Disease

Question 11

Deformed, fragile red blood cells that can clog the blood vessels, depriving the body oxygen; symptoms include severe pain, stunted growth, frequent infections, leg ulcers, gallstones, susceptibility to pneumonia and stroke.

Answer 11

Sickle cell Anemia

Question 12

Degenerative disease of the brain and nerve cells, resulting in death before age 5.

Answer 12

Tay-Sachs Disease

Question 13

A sex chromosome abnormality for male, tall structure, tendency to low IQ especially verbal.

Answer 13

XYY

Question 14

A sex abnormality for females with normal appearance, menstrual irregularities, learning disorders and mental retardation.

Answer 14

XXX (Triple X)

Question 15

A sex abnormality for male with sterility, underdeveloped secondary sex characteristics, small testes and learning disorder.

Answer 15

XXY (Kleinfelter’s Syndrome)

Question 16

A sex abnormality for females with short stature, webbed neck, impaired spatial abilities, no menstruation, infertility, underdeveloped sex organs, incomplete development of secondary sex characteristics.

Answer 16

XO (Turner’s syndrome)

Question 17

A sex chromosome abnormality characterized as having minor to severe metal retardation, symptoms which are more severe in males, include delayed speech and motor development, speech impairments and hyperactivity; the most common inherited form of metal retardation.

Answer 17

Fragile X