Chromosome Nomenclature Flashcards Preview

M2M Unit II > Chromosome Nomenclature > Flashcards

Flashcards in Chromosome Nomenclature Deck (90)
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1

46,X,i(Xq)

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

1

isochromosome

i

1

break

:

2

dup

duplication

3

del

deletion

4

maternal origin

mat

4

terminus

ter

5

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

5qter -->5p15:

6

::

break and join

7

a missing sex chromosome

O

8

der

derivative chromosome

8

derivative chromosome

der

8

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

46,X,i(Xq)

9

marker chromosome

mar

9

ring chromosome

r

11

p

short arm

12

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

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

12

short arm

p

13

normal male karyotype

46, XY

13

break and join

::

13

Female with an extra unidentified chromosome.

47,XX,+mar

14

r

ring chromosome

15

pat

paternal origin

15

46,XX/47,XX,+8

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