(M) Nomenclature for Structural Abnormalities (Extra Practice Exercise)

Question 1

karyotype

Female with classic trisomy 21

Answer 1

Answer: 47,XX,+21

Question 2

karyotype

Male with terminal deletion of chromosome 3, short arm, region 2, band 3, sub-band 1

Answer 2

46,XY,del(3)(p23.1)

Question 3

A female with monosomy X

Answer 3

45,X

Question 4

A male with triploidy

Answer 4

69,XXY or 69,XYY

Question 5

A female with balanced reciprocal translocation with breakpoint in the long arm of chromosome 7, region 2 band 3 and the short arm of chromosome 10, region 3 band 2 sub-band 1

Answer 5

46,XX,t(7;10)(q23;p32.1)

Question 6

a normal male presents deletion in chromosome 4 at the short arm, region 1, band 6, and sub-band 3

Answer 6

46,XY,del(4)(p16.3)

Question 7

abnormality

46,XY,del(4)(p16.3)

Answer 7

terminal

Question 8

abnormality

46,XX,del(5)(q13q33)

Answer 8

insterstitial

Question 9

karyotype

a normal female presents deletion in chromosome 4 at the long arm, region 1, band 3, and another at the same arm, region 3, band 3 (the 2 distal regions reattach)

Answer 9

46,XX,del(5)(q13q33)

Question 10

karyotype

a normal male presents a ring chromosome at chromosome 7 after cleavage of the short arm, region 2, band 2, and long arm, region 3, band 6

Answer 10

46,XY,r(7)(p22q36)

Question 11

Identify the type of chromosomes

1 2 3 4 5 6 >< 7 8 9 10 D E >< F G H I J K L

Answer 11

Dicentric (2 centromeres)

Question 12

Identify the type of chromosomes

A B C 11 12 13 14

Answer 12

acentric

Question 13

The breaks shown in this chromosome may result in the following, EXCEPT?

a. Terminal deletion
b. Ring chromosome
c. Pericentric inversion
d. Interstitial deletion

Answer 13

d

Question 14

The type of chromosomal aberration shown is a/an?

a. Isochromosome
b. Robertsonian translocation
c. Interstitial inversion
d. Duplication

Answer 14

B

Question 15

The type of chromosomes involved in the preceding questions is?
a. Metacentric
b. Acrocentric
c. Submetacentric
d. Telocentric

Answer 15

B

Question 16

Identify the Structural Abnormalities and karyotype.

1 2 3 4 5 6 >< 7 8 9 10 11 12 10’ 11’ 12’ 13 14

Answer 16

Duplication 46,XX,dup(1)(q10’q12’)_

Question 17

Identify the Structural Abnormalities and karyotype.

A B I H G F >< E D C J K L

Answer 17

Pericentric inversion, 46,XX,inv(3)(pCqI)

Question 18

Identify karyotype and abnormality.

1 2 5 6 >< 7 8 9 10 11 12 13 14

Answer 18

Insterstitial deletion, 46,XX,del(1)(p3p4)

Question 19

Identify karyotype and abnormality.

1’2’3’4’5’6’»<7’8’12’11’10’9’13’14’

Answer 19

Paracentric inversion, 46,XX,inv(1’)(q9’q12’)