Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

foundations. exam 2 > popcorn terms > Flashcards

popcorn terms Flashcards

(65 cards)

Start Studying
1
Q

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

A

marfan syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

infertility

A

cystic fibrosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

skin pigmentation changes, cafe au lait spots

A

Neurofibromatosis Type I (von Recklinghausen disease)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

cleft lip, seizure, small jaw, polydactyly

A

patau syndrome (trisomy 13)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

hemarthrosis

A

hemophilia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

F9 gene

A

factor IX deficiency hemophilia B

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

lisch nodules, optic glioma

A

Neurofibromatosis Type I (von Recklinghausen disease)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Mutation on chromosomes 1 14 or 21

A

familial Alzheimer’s disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

trisomy 18

A

Edwards syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

x lined recessive

A

hemophilia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

BRCA2 chromosome

A

13

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

47 XXY

A

Klinefelter’s syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

trisomy 21

A

down syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

hypertension, back pain, hematuria, UTIs, kidney stones

A

Neurofibromatosis Type I (von Recklinghausen disease)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Chromosome 19 apolipoprotein E (APOE) gene

A

sporadic Alzheimer’s disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

uncontrolled movements, emotional problems, change in personality, depression

A

Huntington’s Disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

neurofibromas, benign tumors that grow on nerves and skin

A

Neurofibromatosis Type I (von Recklinghausen disease)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Dna repair genes

A

Hereditary Nonpolyposis Colorectal Cancer (HNPCC) (Lynch syndrome)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

von Recklinghausen disease

A

Neurofibromatosis Type I

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

APC tumor suppressor mutation

A

Familial adenomatous polyposis (FAP)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Anemia, infections, episodic pain

A

sickle cell disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

no polyps

A

Hereditary Nonpolyposis Colorectal Cancer (HNPCC) (Lynch syndrome)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

connective tissue

A

marfan syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

PKD1 PKD2

A

Polycystic Kidney Disease autosomal dominate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
pulmonary disease
cystic fibrosis
26
Associated with the formation of other cancers | —Uterus, ovaries, stomach, urinary tract, small bowel, bile ducts
Hereditary Nonpolyposis Colorectal Cancer (HNPCC) (Lynch syndrome)
27
CAG trinucleotide repeats
Huntington’s Disease
28
deletion of short part of arm on chromosome 5
Cri-du-Chat Syndrome
29
HBB gene
sickle cell disease
30
problems with nutrient digestion
cystic fibrosis
31
cat like cry
Cri-du-Chat Syndrome
32
Insidious onset, slow progression over months to years of | infections, anemia, bleeding
Chronic Myelogenous Leukemia
33
PKHD1 gene
Polycystic Kidney Disease autosomal recessive
34
sticky protein clumps in the brain
familial Alzheimer's disease
35
CFTR gene
cystic fibrosis
36
Hereditary Nonpolyposis Colorectal Cancer (HNPCC)
Lynch syndrome
37
gynecomastia
Klinefelter's syndrome
38
hypogonadism
Klinefelter's syndrome
39
NFi genen on chromosome 17
tumor suppressor | Neurofibromatosis Type I (von Recklinghausen disease)
40
Meconium ileus
cystic fibrosis
41
freckles in axillae in iris
Neurofibromatosis Type I (von Recklinghausen disease)
42
Translocation between chromosomes 9 and 22
Chronic Myelogenous Leukemia
43
Difficulty breathing, infections in lungs
cystic fibrosis
44
liver cysts
Neurofibromatosis Type I (von Recklinghausen disease)
45
Philadelphia chromosome (22)
Chronic Myelogenous Leukemia
46
coagulation proteins
hemophilia
47
FBN1
marfan syndrome
48
robertsonian translocation of 13 and 14
patau syndrome (trisomy 13)
49
chorea
Huntington’s Disease
50
board chest, webbed neck, amenorrhea, infertility
turner's syndrome
51
wide set eyes, low ears
Cri-du-Chat Syndrome
52
45 X
Turners Syndrome
53
HD gene on chromosome 4
Huntington’s Disease
54
christmas disease
factor IX deficiency hemophilia B
55
BRCA1 and BRCA2 tumor suppressor genes
Hereditary Breast and Ovarian Cancer Syndrome
56
short stature
turners syndrome
57
dislocation of the eye
marfans syndrome
58
trisomy 13
patau syndrome
59
aortic aneurysm or dissection
marfan syndrome
60
club foot, low set ears, small jaw
Edwards syndrome (trisomy 18)
61
F8 gene
VIII deficiency hemophilia A
62
protein microscopic deposits in neurons
Huntington’s Disease
63
BRCA1 chromosome
17
64
heart defeats, mitral valve prolapse, aortic value regurgitation
marfan syndrome
65
autopsy-plaques and tangles
sporadic Alzheimer's disease

foundations. exam 2 (10 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions