LESSON 1.3: EMERGENCE OF HUMAN CYTOGENETICS

Question 1

Down syndrome

Answer 1

Trisomy 21

Question 2

● Lacking sex chromosome
● Either X or Y
(45, X)

Answer 2

Turner syndrome

Question 3

● Extra X Chromosome
● “Super female”
47, XXY

Answer 3

Klinefelter syndrome

Question 4

Extra copy of chromosome 13
TRISOMY 13

Answer 4

Patau syndrome

Question 5

TRISOMY 18: Extra copy of chromosome 18

Answer 5

Edward’s syndrome

Question 6

● Forms when chromosome 9 and chromosome 22 break and exchange parts.
● Commonly identified in chronic myelogenous leukemia (CML)

Answer 6

PHILADELPHIA CHROMOSOME (T9;22)