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M2M Unit II > Chromosome Nomenclature > Flashcards

Chromosome Nomenclature Flashcards

1
Q

46,X,i(Xq)

A

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

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1
Q

isochromosome

A

i

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1
Q

break

A

:

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2
Q

dup

A

duplication

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3
Q

del

A

deletion

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4
Q

maternal origin

A

mat

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4
Q

terminus

A

ter

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5
Q

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

A

5qter –>5p15:

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6
Q

::

A

break and join

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7
Q

a missing sex chromosome

A

O

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8
Q

der

A

derivative chromosome

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8
Q

derivative chromosome

A

der

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8
Q

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

A

46,X,i(Xq)

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9
Q

marker chromosome

A

mar

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9
Q

ring chromosome

A

r

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11
Q

p

A

short arm

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12
Q

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

A

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

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12
Q

short arm

A

p

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13
Q

normal male karyotype

A

46, XY

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13
Q

break and join

A

::

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13
Q

Female with an extra unidentified chromosome.

A

47,XX,+mar

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14
Q

r

A

ring chromosome

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15
Q

pat

A

paternal origin

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15
Q

46,XX/47,XX,+8

A

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

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16
Q

fragile site

A

fra

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17
Q

t

A

translocation

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18
Q

inv(3)(p25:q21)

A

Pericentric inversion of chromosome 3

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19
Q

inv

A

inversion

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20
Q

/

A

mosiacism

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20
Q

dicentric chromosome

A

dic

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22
Q

-

A

loss of

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23
Q

reciprocal translocation

A

rcp

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24
Q

long arm

A

q

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25
Q

rcp

A

reciprocal translocation

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25
Q

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

A

Male with fragile X chromosome

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26
Q

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

A

46,XX/47,XX,+8

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27
Q

mosiacism

A

/

29
Q

ins

A

insertion

29
Q

rob

A

Robertsonian translocation

29
Q

paternal origin

A

pat

30
Q

MatDi(12)

A

maternal disomy for Chr 12

31
Q

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

A

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

33
Q

fra

A

fragile site

34
Q

O

A

a missing sex chromosome

35
Q

normal female karyotype

A

46, XX

36
Q

mar

A

marker chromosome

36
Q

dic(X;Y)

A

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

38
Q

47,XY,der(1)mat

A

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

40
Q

4p-

A

Chromosome 4 with a on of the short arm deleted.

41
Q

insertion

A

ins

43
Q

i

A

isochromosome

45
Q

mat

A

maternal origin

46
Q

der(1)

A

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

47
Q

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

A

46,XX,del(5p)

48
Q

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

A

46, X,Xq-(pter–>q21:)

49
Q

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

A

dic(X;Y)

51
Q

duplication

A

dup

53
Q

2pter–>2q21::8p13–>8pter

A

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

54
Q

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

A

47,XY,der(1)mat

55
Q

gain of

A

+

56
Q

deletion

A

del

58
Q

46, XY

A

normal male karyotype

60
Q

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

A

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
Q

46, XX

A

normal female karyotype

62
Q

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

A

2pter–>2q21::8p13–>8pter

63
Q

Male with fragile X chromosome

A

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

64
Q

q

A

long arm

66
Q

cen

A

centromere

67
Q

Female with trisomy 21

A

47,XX,+21

68
Q

Female with ring X chromosome

A

46,X,r(X)

69
Q

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

A

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

70
Q

46,XX,del(5p)

A

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

71
Q

+

A

gain of

73
Q

ter

A

terminus

74
Q

loss of

A

-

75
Q

:

A

break

76
Q

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

A

der(1)

77
Q

47,XX,+21

A

Female with trisomy 21

78
Q

46, X,Xq-(pter–>q21:)

A

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

79
Q

Pericentric inversion of chromosome 3

A

inv(3)(p25:q21)

80
Q

maternal disomy for Chr 12

A

MatDi(12)

82
Q

46,X,r(X)

A

Female with ring X chromosome

83
Q

dic

A

dicentric chromosome

84
Q

47,XX,+mar

A

Female with an extra unidentified chromosome.

85
Q

centromere

A

cen

86
Q

Robertsonian translocation

A

rob

87
Q

translocation

A

t

88
Q

5qter –>5p15:

A

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

89
Q

Chromosome 4 with a on of the short arm deleted.

A

4p-

90
Q

inversion

A

inv

M2M Unit II (21 decks)

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