Chromosome Abnormalities

Question 1

results from trisomy on chromosome 13

Answer 1

Patau syndrome

Question 2

result of a trisomy on chromosome 21

Answer 2

down syndrome

Question 3

congenital heart disease with 4 heart defects

Answer 3

tetralogyoffallot

Question 4

abnormalities of hemoglobin

Answer 4

sickle cell disease

Question 5

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

Answer 5

spinal muscular atrophy

Question 6

total or partial lack of the X chromosome

Answer 6

Turner syndrome

Question 7

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

Answer 7

Rhesus disease

Question 8

neural tube defects in the development of the spinal column

Answer 8

spinabifida

Question 9

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

Answer 9

prematurity

Question 10

rare disorder of the clotting mechanism of the blood

Answer 10

hemophilia

Question 11

fragile section of the X chromosome

Answer 11

Fragile x

Question 12

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

Answer 12

Klinefelter Syndrome

Question 13

traction injury to the brachial plexus during birth

Answer 13

Erbs palsy

Question 14

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

Answer 14

cerebral palsy

Question 15

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

Answer 15

scoliosis

Question 16

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

Answer 16

acquired immunity

Question 17

lymphocytes that mature in the thymus. help produce antibodies.

Answer 17

T

Question 18

lymphocytes that mature in bone marrow. produce immunoglobulins

Answer 18

B

Question 19

reaction that is immediate. asthma, allergic reactions

Answer 19

type I

Question 20

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

Answer 20

Type II

Question 21

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

Answer 21

Type III

Question 22

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

Answer 22

Type IV

Question 23

infection caused by bacteria within the body

Answer 23

endogenous

Question 24

infection from source outside of the body

Answer 24

exogenous

Question 25

infection that is spread from person to person

Answer 25

infectious/contagious

Question 26

infection that is contracted while in a hospital

Answer 26

nosocomial

Question 27

development of cancerous tumor

Answer 27

carcinogenesis

Question 28

malignant tumors develop their own blood supply

Answer 28

angiogenesis

Question 29

PT interventions for neoplasia (3)

Answer 29

1. strengthening 2. endurance 3. mobility

Question 30

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

Answer 30

autosomal dominant

Question 31

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

Answer 31

autosomal recessive

Question 32

diseases that are manifested through males. females are carriers

Answer 32

x linked

Question 33

down syndrome s/s (3)

Answer 33

1. hypotonicity 2. flat face 3. heart defects

Question 34

patau syndrome s/s (3)

Answer 34

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

Question 35

turner syndrome s/s (3) no PT

Answer 35

1. infertility 2. growth inhibited 3. short neck

Question 36

developmental sequence year 1 (7)

Answer 36

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

Question 37

cerebral palsy s/s (2)

Answer 37

1. seizures | 2. vision, speech, hearing impaired

Question 38

prematurity PT

Answer 38

1. breathing techniques | 2. parent education

Question 39

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

Answer 39

occulta

Question 40

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

Answer 40

meningocele

Question 41

spina bifida where both meninges and spinal cord protrude through skin

Answer 41

mylomeningocele

Question 42

spina bifida PT

Answer 42

treatment similar to SCI

Question 43

hemophilia s/s (2)

Answer 43

1. pain | 2. jt swelling

Question 44

Which muscular dystrophy is the most severe?

Answer 44

Duchenne's DMD

Question 45

DMD life expectancy

Answer 45

late teens/early adult

Question 46

BMD life expectancy

Answer 46

midlife

Question 47

sickle cell s/s (2)

Answer 47

1. fever | 2. jt pain

Question 48

spinal muscular atrophy s/s (2)

Answer 48

1. hypotonia | 2. scoliosis