CHROMOSOMES Flashcards

(70 cards)

0
Q

Most common cytogenetic abnormality of meningioma?

A

Deletion of region 12 on chr22

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1
Q

Oligodendrogliomas responding to chemotherapy

A

19q and 1p deletion

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2
Q

Most common genetic abnormality in medulloblastoma?

A

Duplication of 17q

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3
Q

Beta amyloid

A

Chr21

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4
Q

Presenlin1

A

Chr14

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5
Q

Presenilin2

A

Chr1

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6
Q

Huntington disease

A

Chr4

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7
Q

Prion protein

A

Chr20

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8
Q

APC gene

A

Chr5

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9
Q

Peutz jegher

A

Chr19(STK2) serine threonine kinase

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10
Q

Hemochromatosis

A

HFE 6p

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11
Q

Neuroblastoma

A

Loss of 1p
Loss of 11q
Gain of 17q

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12
Q

Widening of mediastinum seen in which infection

A

Pulmonary anthrax(Hemorrhagic lymphadenitis)

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13
Q

M7 AML

A

t(1;22)

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14
Q

Gold standard of neuromuscular monitoring

A

Mechanomyography

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15
Q

Drugs causing hyperglycaemia

A
Diazoxide
Interferon beta
Atypical antipsychotics
Propranolol
Pentamidine 
Protease inhibitors 
Encainide
Thiazides 
Eptoin
Steroid
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16
Q

ABO gene

A

Chr9

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17
Q

Lewis gene

A

Chr19

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18
Q

Gorlin syndrome

A

Chr9

Patch gene

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19
Q

ATM

A

Chr11

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20
Q

Amphicytes are seen in

A

ATM

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21
Q

Prolonged bleeding from circumcision site and bloody diarrhoea in infancy

A

Wiskott Aldrich syndrome

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22
Q

Named type 4 hypersensitivity reactions

A

Jones mote(basophils hypersensitivity)
Frei(LGV)
Fairley

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23
Q

Named type 1 hypersensitivity reactions

A

Casoni
Theobald smith
Schultz dale
Prausnitz kustner

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24
Jones mote reaction
Cutaneous basophils hypersensitivity | Not a type 4 reaction
25
Most sensitive test for DIC
FDP level
26
Flea bitten kidney
Malignant hypertension | Petechial hemorrhages on kidney surface
27
Ewing sarcoma
Translocation of 22q EWS GENE | More common t(11;22)(q24;q12)
28
Cystinosis
Chr17
29
Swanneck deformity of PCT
Cystinosis
30
Favourable cytogenetic markers in ALL
Trisomy 4,10,17 | t(12;21)
31
Unfavourable prognostic markers in ALL
Hypodiploidy t(1;19) t(4;11) t(9;22)
32
Marfan syndrome
Chr5 chr15 fibrillin
33
Machado Joseph disease
SCA 3 | Chr 14
34
SCA type 2
Chr12
35
Marker positive during window period of hepatitis B
IgM anti HBc
36
Barlow syndrome
MVP
37
Most common leaflet to be affected in MVP
Posterior leaflet
38
MVP murmur increases on
Standing
39
ECG in MVP
Biphasic or inverted T Waves in inferior leads
40
EEG in encephalopathies
``` FIRDA frontal intermittent rhythmic delta activity Periodic epileptiform discharges Triphasic waves(-+-) ```
41
EEG IN hypsarrythmia
Chaotic | West syndrome
42
EEG IN Maple syrup urine disease
comb wave pattern
43
EEG IN absent seizures
3Hz spike dome pattern
44
EEG IN herpes simplex encephalitis
PLED periodic lateralised epileptiform discharges
45
Most definitive urinary finding in acute pyelonephritis
WBC casts
46
Most common cause of pyelonephritis in Community Hospital
E.coli
47
Most common cause of pyelonephritis in ICU
Candida
48
Renal papillary necrosis
``` Pyelonephritis Obstruction Sickle cell anaemia Tuberculosis Cirrhosis Analgesic nephropathy Renal vein thrombosis DM systemic vasculitis ``` POSTCARDS
49
Emphysematous pyelonephritis
DM
50
Xanthogranulomatous pyelonephritis
Obstruction
51
FRC IS BELOW closing volume in
Hyaline membrane disease
52
Normal relation FRC RV CCV
FRC> CCV >RV
53
Catastrophic APS
APS involving 3 or more organ systems
54
Diagnostic criteria for APS
Sappora criteria
55
Antibodies in APS
Anti cardiolipin Anti beta 2 glycoprotein Lupus anticoagulant
56
Clotting tests prolonged in APS
aPTT KCT kaolin clotting time dRVVT
57
Treatment of catastrophic APS
IVIg Rituximab LMWH
58
Williams syndrome
Chr7 | Elastin
59
Beta hemoglobin chain
Chr11
60
Alpha hemoglobin chain
Chr16
61
Wilson disease
Chr13
62
VHL
Chromosome 3
63
PrP gene(prion)
Chr 20
64
Noonan
Chrosome12
65
Myotonic dystrophy
Chr19
66
Friederich ataxia
Chr13
67
Marfan
15q
68
Wilson
Chr13
69
Hemochromatosis
Chr6