Hemodynamic Disorders & Genetic Disorders

Question 1

(+) lines of Zahn in

Answer 1

arterial thrombosis

Question 2

antemortem vs postmortem thrombosis

Answer 2

attached to vessel wall

(+) lines of Zahn

Question 3

paradox of APAS

Answer 3

thrombosis with thrombocytopenia

Question 4

saddle embolus

Answer 4

pulmonary embolism

Question 5

acute decompression sickness: ischemia of femoral head, tibia and humerus

Answer 5

Caisson dse

Question 6

fibrillin-1 gene defect

Answer 6

marfan syndrome

Question 7

defect in alpha subunit of hexosaminidase A

Answer 7

Tay sach’s dse

Question 8

sphingomyelinase def. hepatosplenomegaly, zebra bodies

Answer 8

Niemann Pick Dse

Question 9

MCC of trisomy 21

Answer 9

nondisjunction

Question 10

CATCH22 of Digeorge syndrome

Answer 10

cardiac anomalies
abn facies
thymic hypoplasia
cleft palate hypocacemia

Question 11

47 XXY

eunuchoid, micropenis, metabolic, mitral valve prolapse, gynecomastia

Answer 11

Klinefelter syndrome

Question 12

CGG expansion in FMR1 gene in X chromosome

Answer 12

fragile X syndrome

Question 13

CAG expasion on HTT gene on Ch 4

Answer 13

Huntington disease

Question 14

deletion in paternally derived chr 15

Answer 14

Prader-Willi syndrome

Question 15

deletion in maternally derived chr 15

Answer 15

angelman syndrome

Question 16

happy puppet

Answer 16

angelman syndrome

Question 17

most potent eosinophil activating cytokine known from TH2 cells

Answer 17

IL-5