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MOD I > chapter 5 > Flashcards

chapter 5 Flashcards

1
Q

what gene locus is involved in marfan syndrome

A

Chr 15q21.1

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2
Q

what protein is defective in marfans

A

fibrillin-1

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3
Q

what are the two clinical manifestations of marfans

A
  • decreased structural support from CT

- excessive TGF-B signalling

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4
Q

in what dz is pectus excavatum a sxs

A

marfans

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5
Q

what dz is associated with ectopia lentis

A

marfans

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6
Q

what is the most common COD is marfan’s pts

A

aortic dissection

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7
Q

in what dz is suturing difficult

A

ehler’s-danlos

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8
Q

what dz is associated with rupture of cornea and retinal detachment

A

ED VI (kyphoscoliosis)

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9
Q

what genes are effected in classic E-D

A

COL5A1/COL5A2

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10
Q

what genes are effected in vascular E-D (III)

A

COL3A1

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11
Q

which types of E-D are AD

A

I, II, III, IV, VII

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12
Q

which types of E-D are AR

A

VI

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13
Q

what genes are affected in kyphoscoliosis ED (VI)

A

lysyl hydroxylase

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14
Q

what dz is associated with rupture of colon and large arteries

A

ED III (vascular)

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15
Q

if you see a pt with an MI at age 25 and skin xanthomas, what mutation do you expect them to have

A

LDL receptor

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16
Q

what dz(s) are associated with cherry-red macula

A

tay-sachs

Niemann-pick

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17
Q

where is the mutation in tay-sachs

A

chr 15, alpha-subunit of GM2 ganglioside

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18
Q

what protein is deficient in tay-sachs

A

hexosaminidase

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19
Q

what molecule accumulates in neurons of tay-sachs pts

A

gm2 ganglioside

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20
Q

what molecule accumulates in lysosomes of N-P pts

A

sphingomyelin

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21
Q

what is the inheritance pattern of niemann-pick

A

AR

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22
Q

what dz is associated w/ foamy cytoplasm

A

nieman-pick

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23
Q

where is the mutation in niemann-pick dz

A

Chr 11p15.4

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24
Q

which type of niemann-pick is associated with complete lack of sphingomyelinase

A

type A

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25
Q

what is the most common type of nieman-pick

A

type C

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26
Q

which type of nieman-pick has NO CNS involvment

A

type B

27
Q

what is the infantile form of nieman-pick

A

type A

28
Q

what protein is mutated in gaucher dz

A

glucocerebroside

29
Q

what dz is associated w/ improper activation of macrophages

A

gaucher dz

30
Q

which subtype of gaucher dz is does not have CNS involvement

A

chronic, type I

31
Q

which type of gaucher dz is associated with CNS sxs beginning in adolesence

A

type III

32
Q

which subtype of gaucher dz does not have increased prevalance in jewish populations

A

type II

33
Q

which dz is associated with “crumpled tissue paper” cytoplasm

A

gaucher dz

34
Q

which dz is associated with clouding of the cornea

A

hurler

35
Q

buildup of what causes the sxs of hunter and hurler syndromes

A

mucopolysaccharides (xxxxx-sulfate)

36
Q

what is the common COD in hunters/hurlers syndrome

A

MI/cardiac decompensation

37
Q

what enzyme is deficient in von-gierke dz

A

glucose-6-phosphatase

38
Q

what is the major symptom of von-gierke dz

A

HYPOGLYCEMIA

39
Q

what enzyme is deficient in mcardle dz

A

muscle phosphorylase

40
Q

what are the major sxs of mcardle dz

A

no increase is lactic acid after excercise

muscle weakness and cramps

41
Q

what enzyme is deficient in pompe dz

A

acid maltase

42
Q

what is the major symptom of pompe dz

A

cardiomegaly

43
Q

what is the inheritance pattern of cleft palate

A

multifactorial (:

44
Q

what chromosomal disorders typically occur near centromeres

A

robertsonian translocations

45
Q

what structure is involved in robertsonian transolation trisomy 21

A

q arm of chromosome 21

46
Q

what are the sxs of trisomy 13

A

PATAU

  • polydactyly
  • cleft lip and palate
47
Q

what are the sxs of trisomy 18

A

EDWARDS

  • overlapping fingers
  • horseshoe kidney
  • micrognathia
48
Q

what are the sxs of trisomy 21

A

DOWNS

  • flat facial profile
  • simian crease
  • VSD
49
Q

what syndrome is associated with chromosome 22q11.2 deletion

A

DIGEORGE AND velocardiofacial syndrome

50
Q

what are the sxs of digeorge syndrome

A

t-cell immunodeficiency (thymic hypoplasia)

HYPOCALCEMIA

51
Q

what are the sxs of velocardiofacial syndrome

A

LD, cleft palate, prominent nose

52
Q

what is the karyotype of the most common cause of male infertility

A

47, XXY

klinefelter syndrome

53
Q

what are the sxs of klinefelter

A

long legs
atrophic testes and small penis
gynecomastia and lower IQ

54
Q

what three things are pts with 47, XXY karyotype at increased risk of

A

BREAST CANCER
type II DM
MVP

55
Q

what is the phenotype of the genetic dz associated with cystic hygroma

A

45, X

56
Q

what is the cause of cystic hygroma

A

lymph stasis

57
Q

what dz is associated with streak ovaries

A

turner

58
Q

what gene locus is affected in fragile X syndrome

A

Xq27.3

59
Q

what protein is associated with fragile x syndrome and why is it dysfunctional

A

FMR-1 protein

excessive CGG repeats

60
Q

what gene locus is affected in huntingtons **

A

4p16.3

61
Q

what dz is associated with macroorchidism and MR in males

A

fragile x

62
Q

what is the inheritance pattern of fragile x

A

X-linked, w/ some CARRIER MALES and ANTICIPATION

63
Q

what dz is associated with coarctation of the aorta and bicuspid aortic valve

A

turners

64
Q

which when do CAG repeat expansions occur in huntingtons

A

spermatogenesis

MOD I (1 decks)

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