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Chromosome Analysis Flashcards

(58 cards)

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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

Study These Flashcards
A

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

25
Angelman
Del(15)(q11-2) Paternal UPD Puppet like gait, severe mental retardation, paroxysms of laughter, characteristic facies
26
Langer-Giedion
Del(8)(q24) Facial and limb defects
27
Miller-Dieker
Del(17)(p13.3) LIS1 deletion Lissencephaly( smooth brain with incomplete development), severe mental retardation
28
DiGeorge
Del(22)(pter-q11) Abnormal defects of the thymus and parathyroids, cardiovascular anomalies
29
Aniridia-Wilms’ Tumor
Del(11)(p13) Absence of the iris of the eye Mental and growth retardation Tumors of the kidney
30
Chimerism
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
Clastogens
Cause chromosome breaks Viruses Radiation Pesticides
32
MDS karyotype
-5 -7 +8 del(5q) del(7q)
33
Acute promyelocytic leukemia (M3)
t(15;17)(q22-q11-12)
34
Acute myelomonocytic leukemia (M4)
Inv(16)(p13q22)
35
Acute monocytic leukemia (M5)
t(9;11)(p22;q23) Other 11q23 rearrangements
36
Acute erythroleukemia (M6)
del(5q) del(7q) +8
37
ALL Pre B
t(1;19)(q23;p13)
38
B-Cell
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
T-cell karyotype
Translocations involving 14q11 7p15 7q34
40
CLL karyotype
+12 14q32 translocations
41
CML
t(9;22) i(17q) +8 +Ph +19
42
Polycythemia Vera
Del(20)
43
Burkitt’s Lymphoma
t(8:14)(q24;q32) t(2;8)(p12;q24) t(8;22)(p24;q11)
44
Follicular lymphoma
t(14;18)(q32;q21)
45
Anaplastic large cell lymphoma
t(2;5)(p23;q35)
46
Mantle cell lymphoma
t(11;14)(q13;q32)
47
Oma
Tumor (benign or malignant)
48
Sarcoma
Malignant epithelial tumor
49
Carcinoma
Malignant mesenchymal tumor
50
Size heteromorphisms
Most common are observed in chromosomes 1 9 16 Y
51
Smith-Magenis syndrome
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
Williams syndrome (Williams-Beuren syndrome)
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
Beckwith-Wiedemann syndrome
11p15 region Increased body growth, large tongue, body growth can be asymmetrical
54
Pallister-Killian syndrome
Additional isochromosome of chromosome 12 Weak muscle tone, seizures, large forehead, cleft palate, intellectual disability
55
CML in blast crisis
+der (22) +8 I(17q) +19
56
AML with differentiation (M2)
t(8;21)(q22;q22)
57
Marginal zone lymphoma
t(11;18)(q21;q21)
58
Lower limit of resolution for karyotype, FISH, and microarray
Karyotype: 5-10Mb FISH: Duplication: approx 1Mb Deletion: approx 200kb Array: 1Kb

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