Chromosome Nomenclature

Question 1

del46,XX,del(5p)

Answer 1

deletion;female with cri du chat syndrome due to deletion of part of short arm of one chromosome 5

Question 2

derder(1)

Answer 2

Derivative chromosome / Robertsonian translocationTranslocation chromosome derived from chromosome 1 and containing the centromere of chromosome 1.

Question 3

dicdic(X;Y)

Answer 3

Dicentric chromosomeTranslocation of chromosome containing the centromeres of both the X and Y chromosomes

Question 4

dup

Answer 4

Duplication

Question 5

fra46,Y,fra(X)(q27.3)

Answer 5

Fragile siteMale with fragile X syndrome

Question 6

i46,X,i(X)(q10)

Answer 6

IsochromosomeFemale with isochromosome for the long arm of the x chromosome

Question 7

ins

Answer 7

Insertion

Question 8

invinv(3)(p25q21)

Answer 8

InversionPericentric inversion of chromosome 3

Question 9

mar47,XX,+mar

Answer 9

Marker chromosomeFemale with an extra unidentified chromosome

Question 10

mat47,XY,+der(1)mat

Answer 10

Maternal originMale with an extra der(1) chromosome inherited from his mother

Question 11

p

Answer 11

Short arm of chromosome

Question 12

pat

Answer 12

Paternal origin

Question 13

q

Answer 13

Long arm of chromosome

Question 14

r46,X,r(X)

Answer 14

Ring chromosomeFemale with ring X chromosome

Question 15

rcp

Answer 15

reciprocal translocation

Question 16

robrob(13;21)(q10;q10)

Answer 16

Robertsonian translocationBreakage and reunion have occurred at band 13q10 and band 21q10 in the centromeric regions of chromosomes 13 + 21

Question 17

t46,XX,t(2;8)(q22;p21)

Answer 17

TranslocationFemale with balanced translocation between chromosome 2 and chromosome 8, with breaks in 2q22 and 8 p21

Question 18

ter46,X,del(X)(pter–>q21:)

Answer 18

Terminal or telomereFemale with partial deletion of the X chromosome, distal to band Xq21 (nomenclature shows the portion of the chromosome that is present)

Question 19

+47,XX,+21

Answer 19

Gain ofFemale with trisomy 21

Question 20

-45,XX,-22

Answer 20

Loss ofFemale with monosomy 22

Question 21

/46,XX/47,XX,+8

Answer 21

MosaicismFemale with 2 populations of cells, one with normal karyotype, one with trisomy 8

Question 22

ishish 22q11.2(D22S75*2)

Answer 22

In situ hybridizationFISH with probe from the DiGeorge syndrome region of chromosome 22(for locus D22S75 in 22q11.2) showed on a normal hybridization pattern (2 signals = *2) on metaphase chromosomes

Question 23

46,XX.ish del(22)(q11.2q11.2)(D22S75-)

Answer 23

Female with a normal karyotype by G-banding analysis, with a deletion of proximal region on chromosome 22q (within band 22q11.1) identified by FISH with a probe for locus D22S75

Question 24

arr

Answer 24

array

Question 25

cgharr cgh 1-22(#BACs tested)2,X(#BACs)2,Y(#BACs)*0

Answer 25

Comparative genome hybridizationNormal female array cgh pattern detected by use of the indicated number of BAC clones from the autosomes, X, and Y; patterns show level of hybridization expected for two copies (2) of autosomes and the X, but zero copies (0) of the Y