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Board Review - A - Rapid Review > Deja Review - Genetic Pathology I > Flashcards

Deja Review - Genetic Pathology I Flashcards

1
Q

robertsonian translocation

A

exchange chromosome
-get one big and one small one

small one often lost

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2
Q

lyonization

A

formation of barr bodies

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3
Q

down syndrome associations

A 
endocardial cushion defect
esophageal atresia
brush field spots - white spot border of iris
early onset alzheimers
ALL and AML
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4
Q

rocker bottom feet, micrognathia, prominent occiput

A

edwards - trisomy 18

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5
Q

polydactyly, holoprosencephaly, deafness, cleft lip and palate

A

patau - trisomy 13

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6
Q

association with turner

A

coarc of aorta

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7
Q

risk of schizophrenia

A

deletion 22q11

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8
Q

deletion normally active paternal allele on CH15

A

prader willi

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9
Q

deletion normally active maternal allele on CH15

A

angelman syndrome

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10
Q

incomplete penetrance

A

not all individual with genotype show phenotype

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11
Q

marfan genetic

A

auto dom

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12
Q

huntington genetic

A

CAG repeat

CH 4

auto dominant

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13
Q

brain with huntington

A

atrophy caudate, putamen, frontal cortex

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14
Q

osler weber rendu genetic

A

auto dom

get telangiectasias

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15
Q

hereditary spherocytosis genetic

A

auto dom

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16
Q

sturger weber genetic

A

sporadic

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17
Q

ataxia telangiectasia genetic

A

auto rec

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18
Q

NF1 and NF2 genetic

A

auto dom

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19
Q

tuberous sclerosis genetic

A

auto dom

20
Q

VHL genetic

A

auto dom

21
Q

capillary hemangioblastoma of cerebellum, retina, brain stem, SC

A

VHL

22
Q

VHL gene

A

CH 3

23
Q

achondroplasia genetic

A

auto dom

mutation FGFR3

homozygous - die

24
Q

white reflection with red reflex in infant

A

retionblastoma

auto dom

Rb gene - tumor suppressor CH 13

25
Q

osteogenesis imperfecta genetic

A

auto dom

26
Q

PKU genetic

A

auto rec

27
Q

tay sachs genetic

A

auto rec

28
Q

gaucher genetic

A

auto rec

29
Q

niemann pick genetic

A

auto rec

30
Q

hurler genetic

A

auto rec

31
Q

accumulation of GM2 ganglioside in brain

A

tay sachs

blind, CNS degen
cherry red spot macula

32
Q

glucocerebroside accumulation

A

gaucher disease

auto rec

33
Q

crumpled tissue paper cells

A

gaucher cells

34
Q

accumulation of heparin sulfate and dermatan sulfate

A

mucopolysaccharides

hurler and hunter syndrome

35
Q

hunter vs. hurler

A

hunter - X-linked recessive, no corneal cloud, milder

hurler - auto rec

36
Q

glycogen storage diseases

A

1 - von gierke
2 - pompe
3 - cori
5 - mccardle

37
Q

von gierke vs. pompe

A

von gierke - glucose 6 phosphatase
-glycogen liver and kidney

pompe - a-1.4 glucosidase

  • glycogen accumulation all tissue - heart, skeletal m, brain
  • poor prognosis
38
Q

cori disease

A

deficient - debranching enzyme amylo 1,6 glucosidase

cardiomegaly, hepatomegaly, muscle hypotonia, hypoglycemia

39
Q

cataract

A

in galactosemia

40
Q

maple syrup urine disease genetic

A

auto recessive

41
Q

cystic fibrosis genetic

A

auto rec

-CFTR CH 7

42
Q

cystic fibrosis problems

A

lung, GI tract, pancreas - chloride secretion impaired - dry mucous

sweat gland - no Na/Cl reabsorption

43
Q

sickle cell mutation

A

missense point mutation
6th AA of B chain
-glutamate to valine

44
Q

ceramide trihexosidase accumulation

A

fabry disease

45
Q

diagnosis duchenne

A

elevated serum CK levels

46
Q

defect in fragile X

A

repeat CGG

5’ region of FMR1 gene - X chromosome - X linked

47
Q

large head, coarse features, corneal clouding, splenomegaly

A

hurler syndrome

Board Review - A - Rapid Review (9 decks)

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