Cytogenic Notations

Question 1

This is the notation for normal female karyotype.

Answer 1

46, XX

Question 2

This is the notation for normal male karyotype.

Answer 2

46, XY

Question 3

This is the notation for a female with terminal deletion of one chromosome 5 distal to band 5q13.

Answer 3

46, XX, del (5) (q13)

Question 4

This is the notation for the translocation chromosome derived from chromosome 1 and contains the centromere of chromosome 1.

Answer 4

der (1)

Question 5

This is the notation for the translocation chromosome containing the centromeres of both the X and Y chromosome.

Answer 5

der (X; Y)

Question 6

This is the notation for the pericentric inversion of chromosome 3.

Answer 6

inv (3) (p25q21)

Question 7

This is the notation used to mark a female with an extra unidentified chromosome.

Answer 7

47, XX, +mar

Question 8

This is the notation used for a male with an extra der (1) chromosome inherited from his mother.

Answer 8

47, XY, + der (1) mat

Question 9

This is the notation for a female with ring x chromosome.

Answer 9

48, X, r (X)

Question 10

This is the notation for the breakage and reunion having occurred in band 14q10 and band 21q10 in the centromeric region of chromosome 14 and 21.

Answer 10

rob (14; 21) (q10; q10)

Question 11

This is the notation or a female with balanced translocation between chromosome 2 and 8, with breaks in bands 2q22 and 8p21.

Answer 11

46, XX, t (2; 8) (q22; p21)

Question 12

This is the notation for a female with trisomy 21.

Answer 12

47, XX, +21

Question 13

This is the notation for a male with monosomy 22.

Answer 13

45, XY, -22

Question 14

This is the notation for a female with two population of cells, one with normal karyotype and one with trisomy 21.

Answer 14

46, XX/47, XX, +21