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foundations. exam 2 > popcorn terms > Flashcards

popcorn terms Flashcards

1
Q

hyperflexible joints, over crowed teeth, arm span wider than body

A

marfan syndrome

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2
Q

infertility

A

cystic fibrosis

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3
Q

skin pigmentation changes, cafe au lait spots

A

Neurofibromatosis Type I (von Recklinghausen disease)

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4
Q

cleft lip, seizure, small jaw, polydactyly

A

patau syndrome (trisomy 13)

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5
Q

hemarthrosis

A

hemophilia

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6
Q

F9 gene

A

factor IX deficiency hemophilia B

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7
Q

lisch nodules, optic glioma

A

Neurofibromatosis Type I (von Recklinghausen disease)

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8
Q

Mutation on chromosomes 1 14 or 21

A

familial Alzheimer’s disease

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9
Q

trisomy 18

A

Edwards syndrome

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10
Q

x lined recessive

A

hemophilia

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11
Q

BRCA2 chromosome

A

13

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12
Q

47 XXY

A

Klinefelter’s syndrome

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13
Q

trisomy 21

A

down syndrome

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14
Q

hypertension, back pain, hematuria, UTIs, kidney stones

A

Neurofibromatosis Type I (von Recklinghausen disease)

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15
Q

Chromosome 19 apolipoprotein E (APOE) gene

A

sporadic Alzheimer’s disease

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16
Q

uncontrolled movements, emotional problems, change in personality, depression

A

Huntington’s Disease

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17
Q

neurofibromas, benign tumors that grow on nerves and skin

A

Neurofibromatosis Type I (von Recklinghausen disease)

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18
Q

Dna repair genes

A

Hereditary Nonpolyposis Colorectal Cancer (HNPCC) (Lynch syndrome)

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19
Q

von Recklinghausen disease

A

Neurofibromatosis Type I

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20
Q

APC tumor suppressor mutation

A

Familial adenomatous polyposis (FAP)

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21
Q

Anemia, infections, episodic pain

A

sickle cell disease

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22
Q

no polyps

A

Hereditary Nonpolyposis Colorectal Cancer (HNPCC) (Lynch syndrome)

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23
Q

connective tissue

A

marfan syndrome

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24
Q

PKD1 PKD2

A

Polycystic Kidney Disease autosomal dominate

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25
Q

pulmonary disease

A

cystic fibrosis

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26
Q

Associated with the formation of other cancers

—Uterus, ovaries, stomach, urinary tract, small bowel, bile ducts

A

Hereditary Nonpolyposis Colorectal Cancer (HNPCC) (Lynch syndrome)

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27
Q

CAG trinucleotide repeats

A

Huntington’s Disease

28
Q

deletion of short part of arm on chromosome 5

A

Cri-du-Chat Syndrome

29
Q

HBB gene

A

sickle cell disease

30
Q

problems with nutrient digestion

A

cystic fibrosis

31
Q

cat like cry

A

Cri-du-Chat Syndrome

32
Q

Insidious onset, slow progression over months to years of

infections, anemia, bleeding

A

Chronic Myelogenous Leukemia

33
Q

PKHD1 gene

A

Polycystic Kidney Disease autosomal recessive

34
Q

sticky protein clumps in the brain

A

familial Alzheimer’s disease

35
Q

CFTR gene

A

cystic fibrosis

36
Q

Hereditary Nonpolyposis Colorectal Cancer (HNPCC)

A

Lynch syndrome

37
Q

gynecomastia

A

Klinefelter’s syndrome

38
Q

hypogonadism

A

Klinefelter’s syndrome

39
Q

NFi genen on chromosome 17

A

tumor suppressor

Neurofibromatosis Type I (von Recklinghausen disease)

40
Q

Meconium ileus

A

cystic fibrosis

41
Q

freckles in axillae in iris

A

Neurofibromatosis Type I (von Recklinghausen disease)

42
Q

Translocation between chromosomes 9 and 22

A

Chronic Myelogenous Leukemia

43
Q

Difficulty breathing, infections in lungs

A

cystic fibrosis

44
Q

liver cysts

A

Neurofibromatosis Type I (von Recklinghausen disease)

45
Q

Philadelphia chromosome (22)

A

Chronic Myelogenous Leukemia

46
Q

coagulation proteins

A

hemophilia

47
Q

FBN1

A

marfan syndrome

48
Q

robertsonian translocation of 13 and 14

A

patau syndrome (trisomy 13)

49
Q

chorea

A

Huntington’s Disease

50
Q

board chest, webbed neck, amenorrhea, infertility

A

turner’s syndrome

51
Q

wide set eyes, low ears

A

Cri-du-Chat Syndrome

52
Q

45 X

A

Turners Syndrome

53
Q

HD gene on chromosome 4

A

Huntington’s Disease

54
Q

christmas disease

A

factor IX deficiency hemophilia B

55
Q

BRCA1 and BRCA2 tumor suppressor genes

A

Hereditary Breast and Ovarian Cancer Syndrome

56
Q

short stature

A

turners syndrome

57
Q

dislocation of the eye

A

marfans syndrome

58
Q

trisomy 13

A

patau syndrome

59
Q

aortic aneurysm or dissection

A

marfan syndrome

60
Q

club foot, low set ears, small jaw

A

Edwards syndrome (trisomy 18)

61
Q

F8 gene

A

VIII deficiency hemophilia A

62
Q

protein microscopic deposits in neurons

A

Huntington’s Disease

63
Q

BRCA1 chromosome

A

17

64
Q

heart defeats, mitral valve prolapse, aortic value regurgitation

A

marfan syndrome

65
Q

autopsy-plaques and tangles

A

sporadic Alzheimer’s disease

foundations. exam 2 (10 decks)

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