Molecular 3

Question 1

Most common genetic abnormality in CCRCC

Answer 1

del(3p), vHL

Question 2

common genetic abnormality in papillary RCC

Answer 2

minus Y

Question 3

Xp11 translocation RCC

Answer 3

TFE3 gene,
alveolar/papillary architecture
psammoma bodies
calcified capsule
indolent course
EMA-, CD10+

Question 4

Poor prognostic factors in gliomas

Answer 4

retention of 1p and 19q, del(16p), LOH, EGFR amplification

Question 5

most common abnormality in memingioma

Answer 5

monosomy 22

Question 6

Ewing/PNET translocation genes

Answer 6

FLI1/EWS t(11;22)

Question 7

Location of EWS gene

Answer 7

22q

Question 8

gene translocation of DSRCT

Answer 8

EWS/WT1 t(11;22)

Question 9

Clear cell sarcoma genes

Answer 9

EWS/ATF1 t(12;22)

Question 10

poor prognosis in neuroblastoma

Answer 10

Myc amplification, 1p del

Question 11

locaiton of WT1 gene

Answer 11

11p

Question 12

2 syndromes having WT1 deletion

Answer 12

WAGR

Denys-Drash

Question 13

WAGR stands for

Answer 13

Wilms
Aniriidia,
GU anomalies,
Retardation

Question 14

Syndrome caused by WT2 mutation

Answer 14

Beckwith-Wiedemann

Question 15

Beckwith-Wiedemann sx

Answer 15

macrosomia
macroglossia
hypoglycemia
Wilms, hepatoblastoma

Question 16

Linkage analysis good for

Answer 16

unknown gene mutations

Question 17

3 genes linked to early onset Alzheimers

Answer 17

PSEN1, PSEN2, APP

Question 18

Huntington genetics

Answer 18

CAG repeats

Question 19

CADASIL

Answer 19

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Migraines and TIA

Question 20

HIstology of CADASIL

Answer 20

basal ganglio BV with eosinophilc granular medial deposits, multiple lacunar white matter infarcts
NOTCH3 gene

Question 21

McLeod syndrome

Answer 21

acanthycytes
No Kx
neurologic dysfuntion

Question 22

Charcot-Marie-Tooth

Answer 22

AD, peripheral neuropathy

shows onion bulb formation or axonal sprouting with atrophic axons

Question 23

Inclusion body myositis presentation

Answer 23

foot drop.
rimmed vacuoles (frozen only) with filamentous inclusions

Question 24

myotonic muscular dystrophy

Answer 24

AR, CTG repeats

Question 25

Treatment for malignant hypertension

Answer 25

Dantrolene

Question 26

Defect in malignant hypertension

Answer 26

calcium channel RYR1

Question 27

Brugada syndrome

Answer 27

sudden unexpected nocturnal death syndrome

SCN5A, 3p, alpha subunit of Na channel

Question 28

Arrhythmogenic right ventricular dysplasia

Answer 28

AD, ARVD gene 1q

Question 29

Romano-Ward syndrome

Answer 29

most common inherited Long QT syndrome

Question 30

Jarvell + Lange-Nielson syndrome

Answer 30

Long QT with bilateral sensorineural hearing loss

Question 31

Lesch-Nyhan

Answer 31

hypoxanthine guanine phosphoribosyltransferase

hyperuricemia

Question 32

Fabry dz

Answer 32

alpha-galacrosidase
angiokeratomas
peripheral neuropathies

Question 33

Prader-Willi

Answer 33

Paterally derived 15q11.2

Question 34

Angelman

Answer 34

maternally derived 15q11.2

Question 35

Fragile X

Answer 35

CGG repeats