GENETIC COUNSELING (6) Flashcards Preview

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Flashcards in GENETIC COUNSELING (6) Deck (20):
1

karyotype

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

2

amniocentesis

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

3

chrorionic villi sampling

obtaining chorionic villi cells from the placenta

4

trisomy

one type of chromosome is present in three copies

5

monosomy

chromosomal deletion

6

klinefelter syndrome

a male with an extra X sex chromosome
-marphan is defect in connective tissue
-no facial hair
-testes underdeveloped
-slow learner

7

deletion

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

8

duplication

a chromosome segment is repeated in the same chromosome

9

inversion

a segment joins in the direction opposite from normal

10

translocation

exchange of chromosomal segments between two, non-homologous chromosomes

11

manfran syndrome

defective elastic connective tissue

12

huntington disease

abnormal protein

13

hemphilia

blood doesn't clot normally

14

muscular dystophy

wasting away of the muscles (sex linked)

15

tay sachs disease

a lysosomal storage disease

16

cystic fibrosis

faulty regulator of chloride channel

17

sickle cell disease

sickle shaped RBC

18

nullsomy

none
problem from no separation

19

monosomy

one separation causes a problem

20

sex linked

fragile X, color blindness, muscular dystrophy is