Cytogenetic Nomenclature
Abbreviation
|
Meaning
|
Example
|
Condition
|
|
|
46, XX |
Normal Female Karyotype |
|
|
46, XY |
Normal Male Karyotype |
cen |
centromere |
|
|
del |
deletion |
46,XX,del(5p) |
Female with cri du chat syndrome due to deletion of part of short arm
of one chromosome 5 |
der |
derivative chromosome |
der(1) |
Translocation chromosome derived from chromosome 1 and containing the
centromere of chromosome 1 |
dic |
dicentric chromosome |
dic(X;Y) |
Translocation chromosome containing centromeres from both the X and
the Y chromosomes |
dup |
duplication |
|
|
fra |
fragile site |
46, Y fag(X)(q27.3) |
Male with fragile X chromosome |
i |
isochromosome |
46,X,i(Xq) |
Female with isochromosome fro the long arm of the X chromosome. |
ins |
insertion |
|
|
inv |
inversion |
inv(3)(p25:q21) |
Pericentric inversion of chromosome 3 |
mar |
marker chromosome |
47,XX,+mar |
Female with an extra unidentified chromosome. |
mat |
maternal origin |
47,XY,der(1)mat |
male with additional der(1) translocation chromosome inherited from
his mother. |
p |
short arm of chromosome |
|
|
pat |
paternal origin |
|
|
q |
long arm of chromosome |
|
|
r |
ring chromosome |
46,X,r(X) |
Female with ring X chromosome |
rcp |
reciprocal translocation |
|
|
rob |
Robertsonian translocation |
|
|
t |
translocation |
46,XX,t(2;8)(q21;p13) |
Female with balanced translocation between chromosome 2 and chromosome
8, with breaks in 2q21 and 8p13 |
ter |
terminus |
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) |
+ |
gain of |
47,XX,+21 |
Female with trisomy 21 |
- |
loss of |
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 |
|
|
4p- |
Chromosome 4 with a on of the short arm deleted. |
: |
break |
5qter -->5p15: |
deleted chromosome 5 in a patient with cri du chat syndrome, with a
deletion breakpoint in band p15 |
:: |
break and join |
2pter-->2q21::8p13-->8pter |
Description of der(2) portion of t(2,8) |
/ |
mosaicism |
46,XX/47,XX,+8 |
Female with two populations of cells, a normal karyotype and one with
trisomy 8 |