Deja Review - Genetic Pathology I Flashcards Preview

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Flashcards in Deja Review - Genetic Pathology I Deck (47):
1

robertsonian translocation

exchange chromosome
-get one big and one small one

small one often lost

2

lyonization

formation of barr bodies

3

down syndrome associations

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

4

rocker bottom feet, micrognathia, prominent occiput

edwards - trisomy 18

5

polydactyly, holoprosencephaly, deafness, cleft lip and palate

patau - trisomy 13

6

association with turner

coarc of aorta

7

risk of schizophrenia

deletion 22q11

8

deletion normally active paternal allele on CH15

prader willi

9

deletion normally active maternal allele on CH15

angelman syndrome

10

incomplete penetrance

not all individual with genotype show phenotype

11

marfan genetic

auto dom

12

huntington genetic

CAG repeat

CH 4

auto dominant

13

brain with huntington

atrophy caudate, putamen, frontal cortex

14

osler weber rendu genetic

auto dom

get telangiectasias

15

hereditary spherocytosis genetic

auto dom

16

sturger weber genetic

sporadic

17

ataxia telangiectasia genetic

auto rec

18

NF1 and NF2 genetic

auto dom

19

tuberous sclerosis genetic

auto dom

20

VHL genetic

auto dom

21

capillary hemangioblastoma of cerebellum, retina, brain stem, SC

VHL

22

VHL gene

CH 3

23

achondroplasia genetic

auto dom

mutation FGFR3

homozygous - die

24

white reflection with red reflex in infant

retionblastoma

auto dom

Rb gene - tumor suppressor CH 13

25

osteogenesis imperfecta genetic

auto dom

26

PKU genetic

auto rec

27

tay sachs genetic

auto rec

28

gaucher genetic

auto rec

29

niemann pick genetic

auto rec

30

hurler genetic

auto rec

31

accumulation of GM2 ganglioside in brain

tay sachs

blind, CNS degen
cherry red spot macula

32

glucocerebroside accumulation

gaucher disease

auto rec

33

crumpled tissue paper cells

gaucher cells

34

accumulation of heparin sulfate and dermatan sulfate

mucopolysaccharides

hurler and hunter syndrome

35

hunter vs. hurler

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

hurler - auto rec

36

glycogen storage diseases

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

37

von gierke vs. pompe

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

cori disease

deficient - debranching enzyme amylo 1,6 glucosidase

cardiomegaly, hepatomegaly, muscle hypotonia, hypoglycemia

39

cataract

in galactosemia

40

maple syrup urine disease genetic

auto recessive

41

cystic fibrosis genetic

auto rec
-CFTR CH 7

42

cystic fibrosis problems

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

sweat gland - no Na/Cl reabsorption

43

sickle cell mutation

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

44

ceramide trihexosidase accumulation

fabry disease

45

diagnosis duchenne

elevated serum CK levels

46

defect in fragile X

repeat CGG

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

47

large head, coarse features, corneal clouding, splenomegaly

hurler syndrome