GENETIC COUNSELING (6)

Question 1

karyotype

Answer 1

a visual display of the chromosomes within a cell by pairs in a fixed order

Question 2

amniocentesis

Answer 2

obtaining a sample of amniotic fluid with loose cells from a pregnant woman

Question 3

chrorionic villi sampling

Answer 3

obtaining chorionic villi cells from the placenta

Question 4

trisomy

Answer 4

one type of chromosome is present in three copies

Question 5

monosomy

Answer 5

chromosomal deletion

Question 6

klinefelter syndrome

Answer 6

a male with an extra X sex chromosome

• marphan is defect in connective tissue
• no facial hair
• testes underdeveloped
• slow learner

Question 7

deletion

Answer 7

occurs when a single break causes a chromosome to lose and end piece

Question 8

duplication

Answer 8

a chromosome segment is repeated in the same chromosome

Question 9

inversion

Answer 9

a segment joins in the direction opposite from normal

Question 10

translocation

Answer 10

exchange of chromosomal segments between two, non-homologous chromosomes

Question 11

manfran syndrome

Answer 11

defective elastic connective tissue

Question 12

huntington disease

Answer 12

abnormal protein

Question 13

hemphilia

Answer 13

blood doesn’t clot normally

Question 14

muscular dystophy

Answer 14

wasting away of the muscles (sex linked)

Question 15

tay sachs disease

Answer 15

a lysosomal storage disease

Question 16

cystic fibrosis

Answer 16

faulty regulator of chloride channel

Question 17

sickle cell disease

Answer 17

sickle shaped RBC

Question 18

nullsomy

Answer 18

none

problem from no separation

Question 19

monosomy

Answer 19

one separation causes a problem

Question 20

sex linked

Answer 20

fragile X, color blindness, muscular dystrophy is