Science GA 2.2 Abnormalities and Mutation

Question 1

Trisomy 18

Answer 1

Edward’s Syndrome

Question 2

Trisomy 13

Answer 2

Patau Syndrome

Question 3

Trisomy 21

Answer 3

Down Syndrome

Question 4

Monosomy X

Answer 4

Turner Syndrome Karyotype

Question 5

Chromosome XXY

Answer 5

Klinefelter

Question 6

-Don’t pass from parents to their children (not hereditary) and happen sporadically or randomly, without the mutation existing in a person’s family history

Answer 6

Somatic or Acquired Mutation

Question 7

-Occur in a parent’s reproductive cells (egg or sperm)
-These mutations change the genetic material that the child receives from their parent (hereditary)
-You can inherit germline mutations from either parent

Answer 7

Germline or Heritable Mutation

Question 8

-Sickle Cell Anemia
-The sickle cells die early, which causes a constant shortage of red blood cells
-Also, when they travel through small blood vessels, they get stuck and clog the blood flow
-Causes pain
-Kind of mutation

Answer 8

Negative Mutation

Question 9

-Katahdin Potato
-Thin skin and white flesh. Store well. Good for baking and mashing
-Kind of mutation

Answer 9

Positive Mutation

Question 10

-Removal of information from the gene or chromosome

Answer 10

Deletion

Question 11

-Associated with the presence of an extra chromosome fragment
-Causes an abnormality in the eye

Answer 11

Cat’s Eye Syndrome

Question 12

-Extra DNA, genes, or extra base pairs are added into an exiting gene

Answer 12

Insertion

Question 13

-An inherited disorder that causes nerve cells (neurons) in parts of the brain to gradually break down and die

Answer 13

Huntington’s Disease

Question 14

-The DNA is reversed and reinserted into the chromosome

Answer 14

Inversion

Question 15

-Usually an inherited bleeding disorder in which the blood does not clot properly
-This can lead to spontaneous bleeding as well as bleeding following injuries or surgery

Answer 15

Hemophilia