Chromosmes Genes And Disease

Question 1

Cytogenetic is the study of

Answer 1

Chromosome

Question 2

Congenital disease implies that

Answer 2

The diesease is from birth

Question 3

What is used in studying chromosomes ( cytogenetic)

Answer 3

Karyotyping

Question 4

The most used stain in staining chromosome in karyotyping is a

Answer 4

Giasma stain

Question 5

Down syndrome is

Answer 5

Trisomy 21

Extra chromosome at position 21

Question 6

Down syndrome is majorly gotten which parent

Answer 6

Mother side

Question 7

Trisomy 21 is called

Answer 7

Down syndrome

Question 8

Trisomy 18 is called

Answer 8

Edward syndrome

Question 9

Trisomy 13 is called

Answer 9

Patau syndrome

Question 10

Flat face
Protruded tongue
Mental retardation

Is a characteristic of what chromosomal defect

Answer 10

Trisomy 21 Down syndrome

Question 11

Polydactyl and cleft lip palate is a characteristic of what trisomy

Answer 11

Trisomy 13 patau syndrome

Question 12

Deletion of 5p is called

Answer 12

Cri du chat syndrome

Question 13

Cri du chat syndrome is

Answer 13

A deletion at 5p

Question 14

Why was it called Cri du chat syndrome

Answer 14

Cause the major characteristic is the child crying like a cat

Question 15

Lyonization refers to

Answer 15

Inactivation of a X chromosome

Question 16

Turner syndrome is

Answer 16

When a female is only born with one X chromosome

Ie 45X. Instead of 46XX

Question 17

Kleinfelter syndrome is

Answer 17

An extra X chromosome in the male or female sex gene

Question 18

Kleinfelter syndrome cause what majorly in male

Answer 18

Infertility

Question 19

Point mutation is

Answer 19

When a single gene is deleted or affected

Question 20

Missense mutation is when

Answer 20

The change of a dna cause the encoding of a different amino acid in that position

Eg sickle cell where guanine is valine