Chromosome Nomenclature Flashcards
1
Q
46,X,i(Xq)
A
Female with isochromosome fro the long arm of the X chromosome.
1
Q
isochromosome
A
i
1
Q
break
A
:
2
Q
dup
A
duplication
3
Q
del
A
deletion
4
Q
maternal origin
A
mat
4
Q
terminus
A
ter
5
Q
deleted chromosome 5 in a patient with cri du chat syndrome, with a deletion breakpoint in band p15
A
5qter –>5p15:
6
Q
::
A
break and join
7
Q
a missing sex chromosome
A
O
8
Q
der
A
derivative chromosome
8
Q
derivative chromosome
A
der
8
Q
Female with isochromosome fro the long arm of the X chromosome.
A
46,X,i(Xq)
9
Q
marker chromosome
A
mar
9
Q
ring chromosome
A
r
11
Q
p
A
short arm
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
12
Q
short arm
A
p
13
Q
normal male karyotype
A
46, XY
13
Q
break and join
A
::
13
Q
Female with an extra unidentified chromosome.
A
47,XX,+mar
14
Q
r
A
ring chromosome
15
Q
pat
A
paternal origin
15
Q
46,XX/47,XX,+8
A
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
