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27 Cards in this Set

  • Front
  • Back

cen

* centromere

del

* deletion
* Example ... 46, XX, del(5p)

der

* derivative chromosome
* Example ... der(1)

dic

* dicentric chromosome
* dic(X,Y)

dup

* duplication

fra

* fragile site
* 46,Yfra(X)(q21.2)

i

* isochromosome
* 46,X,i(X)(q10)

ins

* insertion

inv

* inversion
* inv(3),(p25,q21)

mar

* marker chromosome
* 47, XX, +mar

mat

* maternal origin
* 47,XY,+der(1)mat

p

* short arm of a chromosome

pat

* paternal origin

q

* long arm in chromosome

r

* ring chromosome
* 46,X,r(X)

rep

* reciprocal translocation

rob

* Robertsonian translocation
* rob(13;21)(q10;q10)

t

* translocation
* 46,XX,t(2;8)(q21;q20)

ter

* terminal or telomere
* 46,X,del(X)(pter-->q21:)

+

* gain of
* 46,XY,+21

-

* loss of
* 45,XX,-22

:

* break

::

* break and join

/

* mosaicism

ish

* in-situ hybridization

arr

* microarray

cgh

* comparative genome hybridization