chromosome nomenclature Flashcards
1
Q
,
A
used to separate chromosome, number and designation
2
Q
-
A
loss of chromosome
3
Q
+
A
gain of chromosome
4
Q
;
A
separates rearranged chromosomes
5
Q
del
A
deletion
6
Q
der
A
derived chromosome (chromosome made up of DNA from more then one chromosome, number describes the chromosome that donated the centromere) - example der(8)
7
Q
dicentric chromosome
A
chromosome with 2 centromeres
-example dic(x;y)
8
Q
dup
A
duplication
9
Q
fra
A
indicates fragile site on chromosome (fragile X)
-example 46Y, fra(X)
10
Q
i
A
indicates isochromosome (chromosome has 2 p or 2 q) example 46X, iX
11
Q
ins
A
insertion of a partial chromosome
46XY, ins(2;3)
12
Q
inv
A
inversion
13
Q
mar
A
indicates marker chromosome, an unidentifiable piece of chromosome
14
Q
mat, pat
A
maternally derived chromosome, paternally derived chromosome
15
Q
r
A
ring chromosome
Example 46,X,r(X)
