Nomenclature

Question 1

Tjio and Levan in 1956

Answer 1

46 human chromosomes

Question 2

Technology introduced in 1981 for study of chromosomes

Answer 2

High resolution banding karyotypes

Question 3

Nomenclature for this testing in 1995

Answer 3

FISH

Question 4

ISCN nomenclature for this testing in 2009

Answer 4

Microarray

Question 5

ISCN nomenclature for this testing in 2016

Answer 5

NGS

Question 6

In the description of a karyotype, the first symbol recorded is the number of _______ structures with __________, including ___ __________________

Answer 6

chromosomes
centromeres
sex chromosomes

Question 7

The second symbols in the karyotype are the ____ ____________

Answer 7

sex chromosomes (XX, XY, X, XXX, XXYY)

Question 8

___ or ____ signs are placed before a chromosome’s number to indicate an additional or missing whole chromosome.

Answer 8

+, -

Question 9

A _____ is used to indicate uncertainty and is placed immediately before the symbol that is in question

Answer 9

?

Question 10

A ___________ that is at the interface of two bands is designated by the band number of the band most distal to the centromere

Answer 10

breakpoint

Question 11

Abnormalities in number and structural abnormalities are listed in numerical order of chromosome involved with _____ chromosomes first

Answer 11

sex

Question 12

________ - separates descriptive units

Answer 12

comma

Question 13

__________ - separates chromosomes and chromosome regions in structural rearrangements involving more than one chromosome

Answer 13

semicolon (;)

Question 14

_______ indicates break

Answer 14

colon (:), single

Question 15

________ indicates break/reunion

Answer 15

double colon ::

Question 16

Turner syndrome

Answer 16

45, X

Question 17

Klinefelter’s syndrome

Answer 17

47, XXY

Question 18

Jacobs syndrome

Answer 18

47, XYY

Question 19

Down syndrome

Answer 19

47, XX, +21

Question 19

Edward’s syndrome

Answer 19

47, XX, +18

Question 20

Patau syndrome

Answer 20

47, XX, +13

Question 21

Trisomy 16

Answer 21

47, XX, +16

Question 22

Triploidy

Answer 22

69, XXX

Question 23

Tetraploidy

Answer 23

92, XXXX

Question 24

Reciprocal translocation of chromosome 6 and 10 at p23 and q25

Answer 24

46,XY,t(6;10)(p23;q25)

Question 25

Reciprocal translocation of chromosome 6 and 10 at p23 and q25 with derivative chromosome 6

Answer 25

46, XY, der(6)t(6;10)(p23;q25)

Question 26

_______ inversions involve the centromere

Answer 26

paricentric

Question 27

_______ inversions involve one arm chromosome arm only

Answer 27

paracentric

Question 28

Paricentric inversion of chromosome 3 at p13 and q21

Answer 28

46,XX,inv(3)(p13q21)

Question 29

Deletion of chromosome 5 between bands q13 and q33

Answer 29

46,XX,del(5)(q13q33)

Question 30

Balanced Robertsonian translocation between chromosome 14 and 21 bands q10 and q10

Answer 30

45,XX,der(14;21)(q10;q10)

Question 31

Unbalanced Robertsonian translocation between chromosome 14 and 21 bands q10 and q10

Answer 31

47, XY,der(14;21)(q10;q10),+21

Question 32

Balanced isochromosome 21 at q10

Answer 32

45,XX,i(21)(q10)

Question 33

Isochromosome 21 at q10 with Down syndrome phenotype

Answer 33

46,XX,i(21)(q10)

Question 34

Term for isodicentric chromosome with one inactive centromere

Answer 34

pseudoisodicentric

Question 35

Mosaic karyotype with 15 cells of Turners syndrome, 10 cells of triple X and 23 cells of normal phenotype

Answer 35

45,X[15]/47,XXX[10]/46,XX[23]

Question 36

_______ is the most basic clone of a tumor cell population while the ______ are the deviating subclones

Answer 36

stemline, sidelines

Question 37

In cancer karyotypes the _______ ________ of the cancer presents the cell lines in order of increasing complexity

Answer 37

clonal evolution

Question 38

Cancer preparations with a gain of X (hint: basic karyotype and not triple XXX)

Answer 38

47, XX, +X

Question 39

Gain of chromosome 21 in cancer of someone with Down syndrome

Answer 39

47, XX, +21, +21c (one is constitutional and the other denotes neoplastic change)

Question 40

CMA normal female and male

Answer 40

arr (X,1-22)x2 normal female
arr(X,Y)x1,(1-22)x2 normal male

Question 41

Cytogenetics predominantly looks at chromosomes during __________ but FISH looks at chromosomes in _____________

Answer 41

Metaphase, interphase

Question 42

_______ blood tubes are good for cytogenetics whereas ______ blood tubes are good for DNA extraction and molecular studies

Answer 42

Sodium heparin (green top) * not lithium heparin
EDTA (purple top)

Question 43

Constitutional studies count and check the sex chromosomes for ______ metaphase spreads, and then fully analyze a minimum of_____ spreads to do the detailed comparison of each segment without any crossovers. The best examples are used to prepare a karyotype

Answer 43

20, 5 (spreads for detailed comparison)

Question 44

Cartoon drawings of chromosomes are called __________

Answer 44

ideograms

Question 45

Bands per haploid set (BPH) depends on stage of _____________

Answer 45

condensation

Question 46

Abbreviation for fragile site

Answer 46

fra

Question 47

Abbreviation for double minute chromosome

Answer 47

dmin

Question 48

Deletion of 5p (p15) and syndrome?

Answer 48

46, XY, del(5p)(p15)
Cri du chat

Question 49

Interstitial deletion of chromosome 22 q11.2q11.2

Answer 49

46, XY, del(22q)(q11.2q11.2)

Question 50

Syndrome for 46,XX,rec(8)dup(8q)inv(8)(p23.1q22.1)?

Answer 50

San Luis Valley Syndrome