principles genetic syndromes

Question 1

Baby with severe mental impairment, karyotype 47 XY +21

Answer 1

Down’s Syndrome

Question 2

trisomy 21

Answer 2

karyotype 47 XY +21 , Down’s Syndrome

Question 3

Baby with life-threatening heart defects, karyotype 47XY + 18 (Trisomy 18)

Answer 3

Edward’s Syndrome

Question 4

A young female with normal intelligence, who is infertile, and without menstrual periods or breasts. She also has a short, webbed neck. Karyotype 45X (Monosomy X in females)

Answer 4

Turner Syndrome

Question 5

Karyotype 45X

Answer 5

Turner Syndrome

Question 6

Young male with normal intelligence, who is sterile and has developed breast and small genitals. Karyotype 47 XXY (Disomy X in males)

Answer 6

Kleinfelter’s Syndrome

Question 7

Baby with pulmonary stenosis and ventricular septal defect, has an obvious cleft palate, was diagnosed using FISH (fluorescence in situ hybridization) which showed a deletion of q11 gene on chromosome 22.

Answer 7

DiGeorge Syndrome

Question 8

47 XY +21

Answer 8

Down syndrome, trisomy 21

Question 9

47 XY +14

Answer 9

Miscarriage, trisomy 14

Question 10

47 XY +18

Answer 10

Edward Syndrome, trisomy 18

Question 11

45 X

Answer 11

Turner syndrome

Question 12

47 XXY

Answer 12

Kleinfelter’s Syndrome

Question 13

Down syndrome, trisomy 21

Answer 13

47 XY +21

Question 14

Miscarriage, trisomy 14

Answer 14

47 XY +14

Question 15

Edward Syndrome, trisomy 18

Answer 15

47 XY +18

Question 16

Turner syndrome

Answer 16

45 X

Question 17

Kleinfelter’s Syndrome

Answer 17

47 XXY