Chromosome Abnormalities Flashcards
results from trisomy on chromosome 13
Patau syndrome
result of a trisomy on chromosome 21
down syndrome
congenital heart disease with 4 heart defects
tetralogyoffallot
abnormalities of hemoglobin
sickle cell disease
degeneration of the anterior horns of the spinal cord resulting in hypotonia and weakness
spinal muscular atrophy
total or partial lack of the X chromosome
Turner syndrome
caused by rhesus incompatibility of the maternal blood to that of the fetus
Rhesus disease
neural tube defects in the development of the spinal column
spinabifida
an infant born before the 37th week of pregnancy or with a weight below 2500g
prematurity
rare disorder of the clotting mechanism of the blood
hemophilia
fragile section of the X chromosome
Fragile x
affects males only and is caused by the presence of an additional X chromosomes. small testes, enlarged mammary glands
Klinefelter Syndrome
traction injury to the brachial plexus during birth
Erbs palsy
result of damage to the infant brain before, during or immediately after birth
cerebral palsy
abnormal lateral curvature of the spine that can be either structural or functional
scoliosis
develops in response to exposure to an antigen. antibodies formed to destroy antigen
acquired immunity
lymphocytes that mature in the thymus. help produce antibodies.
T
lymphocytes that mature in bone marrow. produce immunoglobulins
B
reaction that is immediate. asthma, allergic reactions
type I
reaction where antibodies react within body tissue. Body attacks itself. Diabetes, RA, MS
Type II
immune complex reaction. Antibodies and antigens group together in tissues. RA
Type III
reaction that is a delayed response. allergic reactions to chemicals, toxins, plants etc
Type IV
infection caused by bacteria within the body
endogenous
infection from source outside of the body
exogenous
infection that is spread from person to person
infectious/contagious
infection that is contracted while in a hospital
nosocomial
development of cancerous tumor
carcinogenesis
malignant tumors develop their own blood supply
angiogenesis
PT interventions for neoplasia (3)
- strengthening
- endurance
- mobility
disease that is inherited from one parent. 50% chance of child inheriting the gene
autosomal dominant
disease that a child has 25% chance of inheriting if both parents are carriers
autosomal recessive
diseases that are manifested through males. females are carriers
x linked
down syndrome s/s (3)
- hypotonicity
- flat face
- heart defects
patau syndrome s/s (3)
- hypotonia
- rocker bottom feet
- fatal in teen years
turner syndrome s/s (3)
no PT
- infertility
- growth inhibited
- short neck
developmental sequence year 1 (7)
- roll to supine
- sit supported
- roll prone
- sits unsupported
- crawl
- stand
- walk
cerebral palsy s/s (2)
- seizures
2. vision, speech, hearing impaired
prematurity PT
- breathing techniques
2. parent education
spina bifida that is not visible to the eye. often no s/s
occulta
spina bifida where spinal cord is intact, minimal damage esp if defect is closed right after birth
meningocele
spina bifida where both meninges and spinal cord protrude through skin
mylomeningocele
spina bifida PT
treatment similar to SCI
hemophilia s/s (2)
- pain
2. jt swelling
Which muscular dystrophy is the most severe?
Duchenne’s DMD
DMD life expectancy
late teens/early adult
BMD life expectancy
midlife
sickle cell s/s (2)
- fever
2. jt pain
spinal muscular atrophy s/s (2)
- hypotonia
2. scoliosis
