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PHA 520 - Foundations > Genetic Diseases > Flashcards

Genetic Diseases Flashcards

1
Q

Down Syndrome

A
  • Trisomy 21
  • Increased incidence with advanced maternal age
  • Gamete has two copies of chromosome 21 when it’s fertilized
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2
Q

What is the most common chromosomal abnormality in live births?

A

Down syndrome/trisomy 21

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3
Q

Characteristics of Down Syndrome

A
  • Intellectual disability
  • Characteristic facies
  • Cardiac defects
  • Hearing loss
  • Visual problems
  • 50% develop Alzheimer’s
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4
Q

Edward Syndrome

A
  • Trisomy 18
  • Either 3 copies of 18 or translocation
  • Most die before or shortly after birth
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5
Q

What is the second most common autosomal trisomy after trisomy 21 that goes to full term?

A

Edwards syndrome/trisomy 18

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6
Q

Characteristics of Edwards syndrome/trisomy 18

A
  • Club foot (rocker bottom feet)
  • Kidney and heart defects
  • developmental delay
  • Low set ears
  • Small jaw
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7
Q

Trisomy 13

A

-Patau syndrome

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8
Q

Characteristics of Trisomy 13/Patau syndrome

A
  • Cleft lift or palate
  • Severe intellectual disabilities
  • Seizures
  • Many die within the first days or weeks
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9
Q

Cri-du-chat Syndrome

A
  • Deletion of part of the short arm (p) of chromosome 5
  • Cat-like cry due to abnormal larynx development
  • Intellectual disability, wide set eyes, low ears
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10
Q

Klinefelter Syndrome

A
  • 47 XXY
  • Affects male physical and cognitive development
  • Hypogonadism and infertility
  • Gynecomastia and reduced body hair
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11
Q

What is the most common sex chromosome aneuploidy in males?

A

Klinefelter syndrome (XXY, 47)

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12
Q

Turner Syndrome

A
  • 45 X
  • affects development in females
  • Nonfunctional ovaries
  • Short stature
  • Broad chest
  • Amenorrhea and infertility
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13
Q

Huntington’s disease

A
  • Progressive neurodegenerative disease
  • Autosomal dominant
  • Main symptom: chorea
  • Uncontrolled movements, emotional problems, loss of thinking ability
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14
Q

What is the Huntington’s genetic defect?

A

HD gene on chromosome 4 that codes for the protein huntingtin

  • CAG trinucleotide repeat (36-120 repeats)
  • more repeats = worse disease
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15
Q

What is the only human disorder of complete dominance?

A

Huntington’s

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16
Q

Alzheimer’s disease

A
  • neurodegenerative dx
  • most common form of dementia
  • occurs in older patients
  • those with a 1st degree relative are at increased risk
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17
Q

What is the pathophysiologic response in Alzheimers?

A
  • loss of cholinergic neurons in brain (loss of ACh)
  • formation of plaques and tangles in the brain
  • atrophy of brain
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18
Q

Two forms of Alzheimers genes:

A
  • familial (early onset)

- sporadic (late onset)

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19
Q

Familial Alzheimer’s disease

A
  • early onset AD
  • symptoms start before age 65
  • mutations on chromosomes 1, 14, or 21
  • Rare
  • Autosomal dominant
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20
Q

What chromosomes are affected in familial Alzheimer’s disease patients?

A

1, 14, 21

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21
Q

What mode of inheritance is familial Alzheimer’s disease?

A

Autosomal dominant

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22
Q

Gene for increased risk of sporadic Alzheimer’s disease

A

Chromosome 19 apolipoprotein E (APOE)

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23
Q

Two major genes in hereditary breast and ovarian cancer syndrome

A

BRCA1
BRCA2
(mutated cancer suppressor genes)

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24
Q

Chromosome associated with BRCA1

A

Chromosome 17

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25
Q

Chromosome associated with BRCA2

A

Chromosome 13

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26
Q

What inheritance pattern do BRCA1/BRCA2 follow?

A

Autosomal dominant

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27
Q

Which BRCA gene is associated with male breast cancer, ovarian cancer, prostate cancer, and pancreatic cancer?

A

BRCA2

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28
Q

Does the presence of BRCA1/BRCA2 guarantee an individual will have cancer?

A

No

29
Q

What are the strongest risk factor for colorectal cancer?

A

Diet, exercise, smoking, and obesity.

Genetic predisposition is the main risk factor in only a small proportion.

30
Q

Patterns of colorectal cancer in a family that exist without a specific mutation are called ____________.

A

familial CRC

31
Q

Familial Adenomatous Polyposis (FAP)

A
  • <1% of CRC cases
  • Autosomal dominant
  • Mutation in the adenomatous polyposis coli gene
  • Hundreds to thousands of polpys in colon beginning in adolescence
  • Cancer in 20’s
  • Risk of CRC is nearly 100% before 50 yo
32
Q

The gene responsible for familial adenomatous polyposis:

A

APC (tumor suppressor gene) on chromosome 5

33
Q

Children of patients with FAP should have genetic screening by age ___.

A

10 yo

34
Q

Once diagnosis of FAP is established, total colectomy is recommended before ___ years old.

A

20

35
Q

Hereditary nonpolyposis colorectal cancer (HNPCC)

A
  • aka Lynch Syndrome
  • 2-3% of all CRCs
  • Autosomal dominant
  • Cancer occurs in the 30’s and 40’s
36
Q

Chronic myelogenous leukemia (CML) genetic defect

A

translocation 9;22 (Philadelphia chromosome)

37
Q

CML characteristics

A
  • More common in men
  • Presentation in mid-50’s
  • Philadelphia chromosome t(9;22)
38
Q

Bleeding disorders caused by mutations in genes that code for coagulation proteins

A

Hemophilia

39
Q

Genetic defect in hemophilia

A

mutation on F8 or F9 genes on the X chromosome

40
Q

Hemophilia A

A
  • Factor VIII deficiency

- More common

41
Q

Hemophilia B

A
  • Factor IX deficiency
  • Christmas disease
  • less common than hemophilia A/VIII
42
Q

Hemophilia pattern of inheritance

A

X-linked recessive

-men mostly affected

43
Q

Sickle Cell Disease

A
  • hemoglobin S
  • distorts the RBC into crescent shapes, which breaks them down prematurely
  • Anemia, infections, pain, SOB, fatigue
44
Q

Genetic mutation in sickle cell disease

A
  • HBB gene mutation

- Hemoglobin S

45
Q

Inheritance pattern for Sickle Cell disease

A

autosomal recessive

46
Q

Inheritance pattern for cystic fibrosis

A

autosomal recessive

47
Q

What is the genetic mutation for CF?

A

mutation in the CFTR gene

48
Q

What does the CFTR gene do?

A

Codes for a protein that regulates chloride channels in epithelial cells

49
Q

What is the hallmark clinical manifestation in CF patients?

A

Thick, sticky mucous obstructing airways in lungs and pancreatic ducts

50
Q

What is the most common cause of morbidity associated with CF?

A

pulmonary disease - obstruction and bacterial infections

51
Q

What is the primary test for diagnosis of CF?

A

sweat chloride test (positive result is an elevated concentration of chloride in sweat)

52
Q

What is the inheritance mechanism for Marfan syndrome?

A

Autosomal dominant

53
Q

What is the gene affected by an inherited or new mutation in Marfan syndrome?

A

Fibrillin-1 gene (FBN1)

54
Q

What genetic disease causes defects in connective tissue affecting multiple systems?

A

Marfan Syndrome

55
Q

What are the clinical manifestations of Marfan Syndrome?

A
  • Tall
  • Long thin arms and legs
  • Arm span wider than body height
  • Long, narrow face
  • High, arched palate
  • Scoliosis
  • Hyperflexible joints
  • Chest deformities
56
Q

What are the two key primary features of Marfan syndrome?

A

Dislocated lens of the eye

Aortic aneurysm/dissection

57
Q

What are the major cause of morbidity and mortality in people with Marfan syndrome?

A

heart defects

58
Q

Neurofibromatosis Type I aka

A

von Recklinghausen disease

59
Q

What is the genetic mutation in neurofibromatosis type I?

A

NF1 gene on chromosome 17

60
Q

What disease results in neurofibromas (benign tumors that grow on the nerves of skin and brain)?

A

neurofibromatosis type I

61
Q

What are the main clinical features of NF-1?

A
  • Subcutaneous tumors
  • Cafe-au-lait spots
  • Lisch nodules in iris
  • Freckles in axillae and groin (Crowe sign)
62
Q

What genetic disease causes clusters of fluid-filled sacs to develop in the kidneys?

A

Polycystic kidney disease

63
Q

What are the two forms of polycystic kidney disease?

A

Autosomal dominant (PKD1 and PKD2)

Autosomal recessive (PKHD1)

64
Q

What form of polycystic kidney disease is rarer and more lethal?

A

autosomal recessive (PKHD1)

65
Q

What percentage of newborns have some birth defect?

A

10%

66
Q

What is the biggest cause of birth defects?

A

Unknown etiology

67
Q

What is the study of abnormal fetal development?

A

teratology

68
Q

What is the critical period for teratogenic effects?

A

3-16 weeks gestation

PHA 520 - Foundations (7 decks)

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