Birth Defects and Genetic Disorder

Question 1

A birth defect in which severe anemia reduces the ability of the blood to carry oxygen is present; nearly all affected infants are stillborn or die soon after birth

Answer 1

Alpha thalassemia

Question 2

A birth defect in which Severe anemia results in weakness, fatigue, and frequent illness; usually fatal in adolescence or young adulthood

Answer 2

Beta thalassemia (Cooley’s anemia)

Question 3

This is a birth defect that Overproduction of mucus, which collects in the lung and digestive tract; children do not grow normally; short life span; the most common inherited lethal defect among White people

Answer 3

Cystic fibrosis

Question 4

This fatal disease is usually found in males, marked by muscle weakness and minor intellectual disability; respiratory failure and death usually occur in young adulthood

Answer 4

Duchenne muscular dystrophy

Question 5

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

Answer 5

Hemophilia

Question 6

Absence of brain tissues; infants who have this are stillborn or die soon after birth

Answer 6

Anencephaly

Question 7

A birth defect in which a Completely closed spinal canal, muscle weakness or paralysis, and loss of bladder and bowel control; often accompanied by hydrocephalus, an accumulation of spinal fluid in the brain, and intellectual disability

Answer 7

Spina bifida

Question 8

Metabolic disorder resulting in intellectual disability

Answer 8

Phenylketonuria (PKU)

Question 9

A birth defect that enlarges kidneys, leading to respiratory problems and congestive heart failure.

Answer 9

Polycystic kidney disease, Infantile form

Question 10

A birth defect that will cause kidney pain, kidney stones, and hypertension resulting in chronic kidney failure

Answer 10

Polycystic kidney disease, Adult form:

Question 11

Deformed red blood cells that clog blood vessels, depriving the body of oxygen; symptoms include severe pain, stunted growth, infections, leg ulcers, gallstones, 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 Pattern of inheritance in which certain characteristics carried on the X chromosome inherited from the mother are transmitted differently to her male and female offspring.

Answer 13

sex-linked inheritance