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Pathophysiology > Chromosome Abnormalities > Flashcards

Chromosome Abnormalities Flashcards

1
Q

results from trisomy on chromosome 13

A

Patau syndrome

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2
Q

result of a trisomy on chromosome 21

A

down syndrome

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3
Q

congenital heart disease with 4 heart defects

A

tetralogyoffallot

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4
Q

abnormalities of hemoglobin

A

sickle cell disease

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5
Q

degeneration of the anterior horns of the spinal cord resulting in hypotonia and weakness

A

spinal muscular atrophy

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6
Q

total or partial lack of the X chromosome

A

Turner syndrome

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7
Q

caused by rhesus incompatibility of the maternal blood to that of the fetus

A

Rhesus disease

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8
Q

neural tube defects in the development of the spinal column

A

spinabifida

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9
Q

an infant born before the 37th week of pregnancy or with a weight below 2500g

A

prematurity

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10
Q

rare disorder of the clotting mechanism of the blood

A

hemophilia

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11
Q

fragile section of the X chromosome

A

Fragile x

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12
Q

affects males only and is caused by the presence of an additional X chromosomes. small testes, enlarged mammary glands

A

Klinefelter Syndrome

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13
Q

traction injury to the brachial plexus during birth

A

Erbs palsy

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14
Q

result of damage to the infant brain before, during or immediately after birth

A

cerebral palsy

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15
Q

abnormal lateral curvature of the spine that can be either structural or functional

A

scoliosis

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16
Q

develops in response to exposure to an antigen. antibodies formed to destroy antigen

A

acquired immunity

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17
Q

lymphocytes that mature in the thymus. help produce antibodies.

A

T

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18
Q

lymphocytes that mature in bone marrow. produce immunoglobulins

A

B

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19
Q

reaction that is immediate. asthma, allergic reactions

A

type I

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20
Q

reaction where antibodies react within body tissue. Body attacks itself. Diabetes, RA, MS

A

Type II

21
Q

immune complex reaction. Antibodies and antigens group together in tissues. RA

A

Type III

22
Q

reaction that is a delayed response. allergic reactions to chemicals, toxins, plants etc

A

Type IV

23
Q

infection caused by bacteria within the body

A

endogenous

24
Q

infection from source outside of the body

A

exogenous

25
Q

infection that is spread from person to person

A

infectious/contagious

26
Q

infection that is contracted while in a hospital

A

nosocomial

27
Q

development of cancerous tumor

A

carcinogenesis

28
Q

malignant tumors develop their own blood supply

A

angiogenesis

29
Q

PT interventions for neoplasia (3)

A
  1. strengthening
  2. endurance
  3. mobility
30
Q

disease that is inherited from one parent. 50% chance of child inheriting the gene

A

autosomal dominant

31
Q

disease that a child has 25% chance of inheriting if both parents are carriers

A

autosomal recessive

32
Q

diseases that are manifested through males. females are carriers

A

x linked

33
Q

down syndrome s/s (3)

A
  1. hypotonicity
  2. flat face
  3. heart defects
34
Q

patau syndrome s/s (3)

A
  1. hypotonia
  2. rocker bottom feet
  3. fatal in teen years
35
Q

turner syndrome s/s (3)

no PT

A
  1. infertility
  2. growth inhibited
  3. short neck
36
Q

developmental sequence year 1 (7)

A
  1. roll to supine
  2. sit supported
  3. roll prone
  4. sits unsupported
  5. crawl
  6. stand
  7. walk
37
Q

cerebral palsy s/s (2)

A
  1. seizures

2. vision, speech, hearing impaired

38
Q

prematurity PT

A
  1. breathing techniques

2. parent education

39
Q

spina bifida that is not visible to the eye. often no s/s

A

occulta

40
Q

spina bifida where spinal cord is intact, minimal damage esp if defect is closed right after birth

A

meningocele

41
Q

spina bifida where both meninges and spinal cord protrude through skin

A

mylomeningocele

42
Q

spina bifida PT

A

treatment similar to SCI

43
Q

hemophilia s/s (2)

A
  1. pain

2. jt swelling

44
Q

Which muscular dystrophy is the most severe?

A

Duchenne’s DMD

45
Q

DMD life expectancy

A

late teens/early adult

46
Q

BMD life expectancy

A

midlife

47
Q

sickle cell s/s (2)

A
  1. fever

2. jt pain

48
Q

spinal muscular atrophy s/s (2)

A
  1. hypotonia

2. scoliosis

Pathophysiology (11 decks)

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