Chromosome Nomenclature Flashcards Preview

M2M Unit II > Chromosome Nomenclature > Flashcards

Flashcards in Chromosome Nomenclature Deck (90):
1

46,X,i(Xq)

Female with isochromosome fro the long arm of the X chromosome.

1

isochromosome

i

1

break

:

2

dup

duplication

3

del

deletion

4

maternal origin

mat

4

terminus

ter

5

deleted chromosome 5 in a patient with cri du chat syndrome, with a deletion breakpoint in band p15

5qter -->5p15:

6

::

break and join

7

a missing sex chromosome

O

8

der

derivative chromosome

8

derivative chromosome

der

8

Female with isochromosome fro the long arm of the X chromosome.

46,X,i(Xq)

9

marker chromosome

mar

9

ring chromosome

r

11

p

short arm

12

46,XX,t(2;8)(q21;p13)

Female with balanced translocation between chromosome 2 and chromosome 8, with breaks in 2q21 and 8p13

12

short arm

p

13

normal male karyotype

46, XY

13

break and join

::

13

Female with an extra unidentified chromosome.

47,XX,+mar

14

r

ring chromosome

15

pat

paternal origin

15

46,XX/47,XX,+8

female with 2 populations of cells: a normal karyotype in some and some with trisomy 8

16

fragile site

fra

17

t

translocation

18

inv(3)(p25:q21)

Pericentric inversion of chromosome 3

19

inv

inversion

20

/

mosiacism

20

dicentric chromosome

dic

22

-

loss of

23

reciprocal translocation

rcp

24

long arm

q

25

rcp

reciprocal translocation

25

46, Y fag(X)(q27.3)

Male with fragile X chromosome

26

female with 2 populations of cells: a normal karyotype in some and some with trisomy 8

46,XX/47,XX,+8

27

mosiacism

/

29

ins

insertion

29

rob

Robertsonian translocation

29

paternal origin

pat

30

MatDi(12)

maternal disomy for Chr 12

31

Female with balanced translocation between chromosome 2 and chromosome 8, with breaks in 2q21 and 8p13

46,XX,t(2;8)(q21;p13)

33

fra

fragile site

34

O

a missing sex chromosome

35

normal female karyotype

46, XX

36

mar

marker chromosome

36

dic(X;Y)

Translocation chromosome containing centromeres from both the X and the Y chromosomes

38

47,XY,der(1)mat

male with additional der(1) translocation chromosome inherited from his mother.

40

4p-

Chromosome 4 with a on of the short arm  deleted.

41

insertion

ins

43

i

isochromosome

45

mat

maternal origin

46

der(1)

Translocation chromosome derived from chromosome 1 and containing the centromere of chromosome 1

47

Female with cri du chat syndrome due to deletion of part of short arm of one chromosome 5

46,XX,del(5p)

48

Female with partial deletion of the long arm from Xq21 to Xqter (nomenclature shows the portion of the chromosome that is present)

46, X,Xq-(pter-->q21:)

49

Translocation chromosome containing centromeres from both the X and the Y chromosomes

dic(X;Y)

51

duplication

dup

53

2pter-->2q21::8p13-->8pter

der (2) portion of t(2,8)

54

male with additional der(1) translocation chromosome inherited from his mother.

47,XY,der(1)mat

55

gain of

+

56

deletion

del

58

46, XY

normal male karyotype

60

45,XX,-14,-21,+t(14q21q)

Normal female carrier of a robertsonian translocation between the long arms of chromosomes 14 and 21; karyotype is missing a normal 14 and a normal 21

61

46, XX

normal female karyotype

62

der (2) portion of t(2,8)

2pter-->2q21::8p13-->8pter

63

Male with fragile X chromosome

46, Y fag(X)(q27.3)

64

q

long arm

66

cen

centromere

67

Female with trisomy 21

47,XX,+21

68

Female with ring X chromosome

46,X,r(X)

69

Normal female carrier of a robertsonian translocation between the long arms of chromosomes 14 and 21; karyotype is missing a normal 14 and a normal 21

45,XX,-14,-21,+t(14q21q)

70

46,XX,del(5p)

Female with cri du chat syndrome due to deletion of part of short arm of one chromosome 5

71

+

gain of

73

ter

terminus

74

loss of

-

75

:

break

76

Translocation chromosome derived from chromosome 1 and containing the centromere of chromosome 1

der(1)

77

47,XX,+21

Female with trisomy 21

78

46, X,Xq-(pter-->q21:)

Female with partial deletion of the long arm from Xq21 to Xqter (nomenclature shows the portion of the chromosome that is present)

79

Pericentric inversion of chromosome 3

inv(3)(p25:q21)

80

maternal disomy for Chr 12

MatDi(12)

82

46,X,r(X)

Female with ring X chromosome

83

dic

dicentric chromosome

84

47,XX,+mar

Female with an extra unidentified chromosome.

85

centromere

cen

86

Robertsonian translocation

rob

87

translocation

t

88

5qter -->5p15:

deleted chromosome 5 in a patient with cri du chat syndrome, with a deletion breakpoint in band p15

89

Chromosome 4 with a on of the short arm  deleted.

4p-

90

inversion

inv