CLINICAL AUTOSOMAL ABNORMALITIES

Question 1

name this abnormality from the information provided?

46XX, del(5p)

Answer 1

Cri du chat syndrome

Question 2

name this abnormality from the information provided?

46XX, [t(9:22), +9p]

Answer 2

9p trisomy

Question 3

name this abnormality from the information provided?

46XY, [t(11:22), +11q]

Answer 3

11q trisomy

Question 4

name this abnormality from the information provided?

46XY, del[15q1]

Answer 4

Prader-Willi syndrome

Question 5

name this abnormality from the information provided?

46XX, del(18p)

Answer 5

18p-syndrome

Question 6

name this abnormality from the information provided?

46XY, del(7q,11.23)

Answer 6

williams syndrome

Question 7

name this abnormality from the information provided?

47XX,+13

Answer 7

Patau syndrome

Question 8

name this abnormality from the information provided?

47XX,+18

Answer 8

Edwards syndrome

Question 9

name this abnormality from the information provided?

47XY,+21

Answer 9

Down syndrome

Question 10

47XY,+21

Answer 10

Down syndrome

Question 11

47XX,+18

Answer 11

Edwards syndrome

Question 12

47XX,+13

Answer 12

Patau syndrome

Question 13

46XY, del(7q,11.23)

Answer 13

williams syndrome

Question 14

46XX, del(18p)

Answer 14

18p-syndrome

Question 15

46XY, del[15q1]

Answer 15

Prader-Willi syndrome

Question 16

46XY, [t(11:22), +11q]

Answer 16

11q trisomy

Question 17

46XX, [t(9:22), +9p]

Answer 17

9p trisomy

Question 18

46XX, del(5p)

Answer 18

Cri du chat syndrome