Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Clinical Cytogenetics and Molecular Genetics > Nomenclature > Flashcards

Nomenclature Flashcards

1
Q

Tjio and Levan in 1956

A

46 human chromosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Technology introduced in 1981 for study of chromosomes

A

High resolution banding karyotypes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Nomenclature for this testing in 1995

A

FISH

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

ISCN nomenclature for this testing in 2009

A

Microarray

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

ISCN nomenclature for this testing in 2016

A

NGS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

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

A

chromosomes
centromeres
sex chromosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

The second symbols in the karyotype are the ____ ____________

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

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

A

+, -

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

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

A

?

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

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

A

breakpoint

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

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

A

sex

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

________ - separates descriptive units

A

comma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

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

A

semicolon (;)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

_______ indicates break

A

colon (:), single

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

________ indicates break/reunion

A

double colon ::

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Turner syndrome

A

45, X

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Klinefelter’s syndrome

A

47, XXY

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Jacobs syndrome

A

47, XYY

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Down syndrome

A

47, XX, +21

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Edward’s syndrome

A

47, XX, +18

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Patau syndrome

A

47, XX, +13

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Trisomy 16

A

47, XX, +16

22
Q

Triploidy

23
Q

Tetraploidy

24
Q

Reciprocal translocation of chromosome 6 and 10 at p23 and q25

A

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

25
Q

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

A

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

26
Q

_______ inversions involve the centromere

A

paricentric

27
Q

_______ inversions involve one arm chromosome arm only

A

paracentric

28
Q

Paricentric inversion of chromosome 3 at p13 and q21

A

46,XX,inv(3)(p13q21)

29
Q

Deletion of chromosome 5 between bands q13 and q33

A

46,XX,del(5)(q13q33)

30
Q

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

A

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

31
Q

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

A

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

32
Q

Balanced isochromosome 21 at q10

A

45,XX,i(21)(q10)

33
Q

Isochromosome 21 at q10 with Down syndrome phenotype

A

46,XX,i(21)(q10)

34
Q

Term for isodicentric chromosome with one inactive centromere

A

pseudoisodicentric

35
Q

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

A

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

36
Q

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

A

stemline, sidelines

37
Q

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

A

clonal evolution

38
Q

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

A

47, XX, +X

39
Q

Gain of chromosome 21 in cancer of someone with Down syndrome

A

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

40
Q

CMA normal female and male

A

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

41
Q

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

A

Metaphase, interphase

42
Q

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

A

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

43
Q

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

A

20, 5 (spreads for detailed comparison)

44
Q

Cartoon drawings of chromosomes are called __________

45
Q

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

A

condensation

46
Q

Abbreviation for fragile site

47
Q

Abbreviation for double minute chromosome

48
Q

Deletion of 5p (p15) and syndrome?

A

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

49
Q

Interstitial deletion of chromosome 22 q11.2q11.2

A

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

50
Q

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

A

San Luis Valley Syndrome

Clinical Cytogenetics and Molecular Genetics (21 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions