Chromosomal Abnormalities

Question 1

Types of Chromosomal Abnormalities

Answer 1

Numerical
Structural

Question 2

Abnormality where this additional number of chromosome

Answer 2

Numerical Chromosomal Abnormality

Question 3

Abnormality where the chromosome pair may have a missing or redundant part of a gene

Answer 3

Structural Chromosomal Abnormality

Question 4

The usual number and sets of chromosomes

Answer 4

Euploidy

Question 5

Th presence of 3 or more complete sets of chromosomes

Answer 5

Polyploidy

Question 6

The presence of additional chromosomes or missing individual chromosomes

Answer 6

Aneuploidy

Question 7

Refers to the number of sets of chromosomes in a cell or an organism

Answer 7

Ploidy

Question 8

Malsegregation of the chromosomes during division

Answer 8

Nondisjunction

Question 9

Abnormal separation or the failure of separation of the chromosome that will result into abnormal chromosome numbers

Answer 9

Nondisjunction

Question 10

Types of Polyploidy

Answer 10

Triploidy
Tetraploidy

Question 11

Type of Polyploidy:

3 sets of chromosomes (23 x 3) (69 chromosomes)

Answer 11

Triploidy

Question 12

Type of Polyploidy:

4 sets of chromosomes (23 x 4) (92 chromosomes)

Answer 12

Tetraploidy

Question 13

Types of Euploidy

Answer 13

Monosomy
Trisomy

Question 14

Type of Euploidy:

One less chromosome (45 chromosomes)

Answer 14

Monosomy

Question 15

Type of Euploidy:

One additional chromosome (47 chromosomes)

Answer 15

Trisomy

Question 16

Examples of syndromes when Aneuploidy Occurs

Answer 16

Patau Syndrome (Trisomy 13)
Edwards Syndrome (Trisomy 18)
Down Syndrome (Trisomy 21)
Turner Syndrome
Klinefelter Syndrome (XXY)
Jacob’s Syndrome (XYY)

Question 17

Trisomy 21 is aka?

Answer 17

Down Syndrome

Question 18

An example of Chromosomal Aberration

Answer 18

Trisomy 21 (An extra chromosome on the 21st chromosome)

Question 19

Trisomy 18 is aka?

Answer 19

Edward’s Syndrome

Question 20

Average life span of infant with Edward’s Syndrome

Answer 20

2-4 months

Question 21

Trisomy with highest mortality

Answer 21

Trisomy 13

Question 22

Trisomy 13 is aka?

Answer 22

Patau Syndrome

Question 23

Most aborted infant Triosomy disorder

Answer 23

Trisomy 13

Question 24

Average lifespan of infants with Patau Syndrome

Answer 24

6 months

Question 25

Having one fewer chromosome in each body cell

Answer 25

Monosomy

Question 26

Example of Monosomy

Answer 26

Turner’s Syndrome

Question 27

Syndrome where there is only one sex chromosome (Only X)

Answer 27

Turner’s Syndrome

Question 28

Types of Sex-Linked Trisomy

Answer 28

Klinefelter Syndrome
Jacob’s Syndrome

Question 29

Disorder where there is nondisjunction of the X chromosome; Males have an extra X chromosome (XXY)

Answer 29

Klinefelter Syndrome

Question 30

Infertility in Klinefelter Syndrome results from?

Answer 30

Azoospermia

Question 31

Complete absence of sperm

Answer 31

Azoospermia

Question 32

“Super Male” syndrome; There is an extra Y chromosome (XYY)

Answer 32

Jacob’s Syndrome

Question 33

Shorthand of Down Syndrome

Answer 33

47, XX/XY, +21

Question 34

Incidence of Down Syndrome

Answer 34

1/750-800

Question 35

Shorthand of Edward Syndrome

Answer 35

47, XX/XY, +18

Question 36

Incidence of Edward Syndrome

Answer 36

1/6,000-11,000

Question 37

Shorthand of Patau Syndrome

Answer 37

47, XX, +13

Question 38

Incidence of Patau Syndrome

Answer 38

1/15,000

Question 39

Incidence of Turner Syndrome

Answer 39

1/5,000

Question 40

Shorthand of Klinefelter Syndrome

Answer 40

46, XXY

Question 41

Shorthand of Jacobs Syndrome

Answer 41

47, XYY