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Microscope > Chromosome Analysis > Flashcards

Chromosome Analysis Flashcards

1
Q

Ballpark estimate

A

Bands on 11p increase with resolution

2 bands- 400
4 bands-550
5 bands- 850

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2
Q

Vancouver method

A

Determine the number of bands on 1,10,11,12 & X

Count only the dark bands

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3
Q

Bands on 10

A

Count light and dark bands on 10

13-14: 400
22-23: 500
32: 650
40: 850

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4
Q

Welborn Method

A

Count chromosome 1&2 and multiply by 6

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5
Q

Trisomy 18 (triple screen)

A

Low AFP, low uE3, low hcG

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6
Q

Trisomy 21 (triple screen)

A

Low AFP, low uE3, high hcG

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7
Q

Level 1 mosaicism

A

Called single cell mosaicism occurs when only one colony shows metaphases with an abnormal karyotype

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8
Q

Level 2 mosacisim

A

Called psuedomosacism occurs when an abnormal karyotype is limited to only one coverslip

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9
Q

Confined placental mosaicism

A

This occurs when an abnormal karyotype is found only in the extraembryonic membranes of the fetus

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10
Q

Level 3 mosaicism

A

True mosacism

Occurs when two or more colonies with the same abnormal karyotype are observed in two or more coverslip cultures

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11
Q

Chromosome groups

A

A: chromosomes 1-3
B: chromosomes 4&5
C: chromosomes 6-12, X
D: chromosomes 13-15
E: chromosomes 16-18
F: chromosomes 19-20
G: chromosomes 21-22, & Y

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12
Q

Nondisjunction

A

The failure of paired chromosomes (meiosis 1) or sister chromatids (meiosis 2 or mitosis) to separate at anaphase

If this occurs during meiosis 1 or during meiosis 2 the abnormal division can result in a constitutionally abnormal individual

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13
Q

Pericentric inversion

A

Centromere is involved in this inversion

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14
Q

Paracentric

A

Occurs when the breaks are on the same arm

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15
Q

Isochromosome

A

Occurs when there is a misdivision of the centromere

Is trisomic for one chromosome arm and one monosomic for the other arm

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16
Q

Turner syndrome abnormality and phenotype

A

45, X

Webbing of neck, short stature and amenorrhea

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17
Q

Klinefelter syndrome and phenotype

A

47,XXY

Tall stature, sterility, gynecomastia

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18
Q

Patau syndrome and phenotype

A

47,XX, +13

Cleft lip or palate, small head

Severe mental retardation and physical deformities

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19
Q

Edward syndrome

A

47,XX,+18

Severe mental retardation and physical deformities

Rocker bottom feet

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20
Q

Wolf Hirschhorn

A

Del(4)(p16)

WHS deletion

Craniofacial defects sometimes coined “Greek warrior helmet”

Pronounced growth and mental retardation

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21
Q

Cri-du-chat

A

Del(5)(p15)
CSF1R deletion

Distinctive cry that sounds like a cat, mental retardation, microencephaly

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22
Q

Retinoblastoma

A

Del(13)(q14)
Rb1 deletion

Tumors of the retina

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23
Q

Cat eye’s

A

Dup(22)(pter-q11)
Tetrasomy of 22p
Coloboma of iris

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24
Q

Prader-Willi

A

Del(15)(q11-2)
SNRPN gene
Maternal UPD
Mental retardation, obesity

25
Q

Angelman

A

Del(15)(q11-2)
Paternal UPD
Puppet like gait, severe mental retardation, paroxysms of laughter, characteristic facies

26
Q

Langer-Giedion

A

Del(8)(q24)
Facial and limb defects

27
Q

Miller-Dieker

A

Del(17)(p13.3)
LIS1 deletion
Lissencephaly( smooth brain with incomplete development), severe mental retardation

28
Q

DiGeorge

A

Del(22)(pter-q11)
Abnormal defects of the thymus and parathyroids, cardiovascular anomalies

29
Q

Aniridia-Wilms’ Tumor

A

Del(11)(p13)
Absence of the iris of the eye
Mental and growth retardation
Tumors of the kidney

30
Q

Chimerism

A

Have two or more cell lines

Can result from
The fusion of fraternal twin zygotes
Double fertilization of an egg and polar body
Exchange of hemopoietic stem cells by dizygotic twins

31
Q

Clastogens

A

Cause chromosome breaks

Viruses
Radiation
Pesticides

32
Q

MDS karyotype

A

-5
-7
+8
del(5q)
del(7q)

33
Q

Acute promyelocytic leukemia (M3)

A

t(15;17)(q22-q11-12)

34
Q

Acute myelomonocytic leukemia (M4)

A

Inv(16)(p13q22)

35
Q

Acute monocytic leukemia (M5)

A

t(9;11)(p22;q23)
Other 11q23 rearrangements

36
Q

Acute erythroleukemia (M6)

A

del(5q)
del(7q)
+8

37
Q

ALL
Pre B

A

t(1;19)(q23;p13)

38
Q

B-Cell

A

t(9;22)(q34;q11)
t(4;11)(q21;q23)
t(8;14)(q24;q32)
t(2;8)(p12;q24)
t(8;22)(q24;q11)

39
Q

T-cell karyotype

A

Translocations involving
14q11
7p15
7q34

40
Q

CLL karyotype

A

+12
14q32 translocations

41
Q

CML

A

t(9;22)
i(17q)
+8
+Ph
+19

42
Q

Polycythemia Vera

A

Del(20)

43
Q

Burkitt’s Lymphoma

A

t(8:14)(q24;q32)
t(2;8)(p12;q24)
t(8;22)(p24;q11)

44
Q

Follicular lymphoma

A

t(14;18)(q32;q21)

45
Q

Anaplastic large cell lymphoma

A

t(2;5)(p23;q35)

46
Q

Mantle cell lymphoma

A

t(11;14)(q13;q32)

47
Q

Oma

A

Tumor (benign or malignant)

48
Q

Sarcoma

A

Malignant epithelial tumor

49
Q

Carcinoma

A

Malignant mesenchymal tumor

50
Q

Size heteromorphisms

A

Most common are observed in chromosomes

1
9
16
Y

51
Q

Smith-Magenis syndrome

A

Del(17)(p11.2)

SMS gene

Small ears, speech delay, hearing loss, eye misalignment, self-hugging, and scoliosis

Outgoing personalities and long term memory

Banding at 650 and higher

52
Q

Williams syndrome (Williams-Beuren syndrome)

A

Del(7)(q11.23)

ELN gene

Heart and vascular conditions, small stature and growth delays, dental problems and intellectual disabilities

Outgoing and social

High blood calcium

53
Q

Beckwith-Wiedemann syndrome

A

11p15 region

Increased body growth, large tongue, body growth can be asymmetrical

54
Q

Pallister-Killian syndrome

A

Additional isochromosome of chromosome 12

Weak muscle tone, seizures, large forehead, cleft palate, intellectual disability

55
Q

CML in blast crisis

A

+der (22)
+8
I(17q)
+19

56
Q

AML with differentiation (M2)

A

t(8;21)(q22;q22)

57
Q

Marginal zone lymphoma

A

t(11;18)(q21;q21)

58
Q

Lower limit of resolution for karyotype, FISH, and microarray

A

Karyotype: 5-10Mb
FISH:
Duplication: approx 1Mb
Deletion: approx 200kb
Array: 1Kb

Microscope (4 decks)

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