[2.2] Chromosomal Mutations

Question 1

What are the 2 human tumors and translocation

Answer 1

1. Chronic Myelogenous leukemia
2. Burkitt’s lymphoma

Question 2

Involves Philadelphia chromosome, reciprocal of 22 and 9 chromosome

Answer 2

Chronic Myelogenous leukemia

Question 3

Mitelman database of chromosome aberration gene fusion in cancer

Answer 3

Neoplasia

Question 4

In Africa, virus-induced tumor, malignant B cells secrete antibodies, reciprocal of 8 and 14 chromosome

Answer 4

Burkitt’s lymphoma

Question 5

One or exact MULTIPLE of complete sets of chromosome

Answer 5

Euploidy

Question 6

Lost or gain of a single chromosome, common in non-disjunction

Answer 6

Aneuploidy

Question 7

4 Types of Aneuploidy

Answer 7

1. Nullisomy
2. Monosomy
3. Trisomy
4. Tetrasomy

Question 8

Types of Aneuploidy:
Both homologous pair are LOST

Answer 8

Nullisomy [2n-2]

Question 9

Types of Aneuploidy:
One chromosome is LOST

Answer 9

Monosomy [2n-1]

Question 10

Types of Aneuploidy:
Single extra chromosome

Answer 10

Trisomy [2n+1]

Question 11

Types of Aneuploidy:
Extra chromosome PAIR

Answer 11

Tetrasomy [2n+2]

Question 12

7 syndromes of Aneuploidy

Answer 12

1. Down syndrome
2. Patau syndrome
3. Edward syndrome
4. Turner syndrome
5. Klinefelter’s syndrome
6. XYY Syndrome
7. Uniparental Disomy

Question 13

Trisomy 21, named “Mongolism”, wide skull, iris contains spots

Answer 13

Down syndrome

Question 14

Trisomy 13, cleft lip, small eyes, Polydactyly, severe malformation of the brain and nervous system

Answer 14

Patau syndrome

Question 15

Trisomy 18, mostly in Females, elongated skull, low-set malformed ears, mental retardation, survival until 2-4 months

Answer 15

Edward Syndrome

Question 16

Monosomy for X chromosome, short & wide chested, extra fold of skin, absence of Barr body, narrowing of aorta

Answer 16

Turner syndrome [45, X]

Question 17

Features fo not develop until puberty, poor sexual development, very low fertility

[Other forms: 48,XXYY & 48, XXXY & 49, XXXXY]

Answer 17

Klinefelter’s syndrome [47, XXY]

Question 18

Above average height, personality disorder, below normal intelligence, violent criminal behavior w/ extra Y chromosome

Answer 18

XYY syndrome [47, XYY]

Question 19

The 2 chromosome is from 1 parent only

Answer 19

Uniparental disomy

Question 20

Normal state in the number of complete sets of chromosomes having more than 2 sets of chromosomes

Answer 20

Polyploidy

Question 21

Result of mitotic and meiotic errors

Answer 21

Auto polyploidy

Question 22

Represents hybridization between species

Answer 22

Allopolyploidy