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27 Cards in this Set

  • Front
  • Back
Angelman syndrome
-absence of maternally contributed PWS/AS region of chromosome 15q11-q13

-delayed motor milestones
-unusual movements – fine tremors, hand flapping
-characteristic facial features
-happy disposition – frequent laughing
-history of epilepsy – abnormal ECG
blood vessel walls thicken, harden and lose elasticity

- usually accumulate lipids
Burkitt lymphoma
- malignant lymphoma,
- osteolysis lesions of facial bones
- associated with Epstein Barr virus
Cri du chat
- normal life expectancy
- problems with larynx at development
- deletion on short arm chromosome 5
- low birth wt, resp problems
Cystic fibrosis
- accumulation of chloride and water in tissues
- impairment in chloride transfer across cell membrane
- genetic disorder of exocrine glands
- mutation in the CF transmembrane regulator gene
DiGeorge syndrome
chromosome 22q11 deletion
- thalmus - absent or partially developed
-parathyroid - absent, hypocalcemia can lead to tetany and seizures
- cardiac - conotruncal defects. Diagnosed from heart defects and low calcium
Disseminated intravascular coagulopathy (DIC)
- blood clots through out the body
- depletion of platelets and coagulation factors
increases risk of hemorrhage
Down Syndrome
trisomy 21
Duchenne muscular dystrophy
- progressive muscle wasting
- mutation affects how nerve cell sends and receives signals
Edwards syndrome
trisomy 18
- cardiac defects, difficulty breathing
-Not compatible with life
Hemophilia A and B
A - factor 8
B - factor 9 (Christmas disease)

easy bruising
massive hemorrhages
need to measure joints for possible bleeding
- virus spread even when sores not visible
- outbreaks several times a year
- virus remains in body - hidden in nerve cells
- viral killing of CD 4 cells
- no immune regulation for protection
Huntingtons disease
- CAG repeats
- produce Huntingtin protein - causes brain damage
- the more CAG repeats, the more damage
Idiopathic thrombocytopenia plura
bleeding disorder - blood doesnt clot as should

Idiopathic = cause unknown
Thrombocytopenia = decrease in number of platelets
Plura = purple dots on skin caused by bleeding
- most common in young females
- joint pain, fever, facial rash, proteinuria, hematuria
- very slow onset
- low levels complement and immune complexes
- connective tissue disorder
- cardiovascular lesions: aortic distention
- mutation on chromosome 15
- B cells harbor EBV
- asymptomatic for life
- onset over several days
- most severe sympton = splenomegaly
- causes tumors to grow on nerves
- can also affect development of bone and skin
- nearly 100% penetrance
-NF gene on chromosome 17
trisomy 13
- survival beyond 1 year uncommon
- polydactyl, cleft palate, eyes dont seperate, cardiac defects
Phenylketonuria (PKU)
- genetic disorder
- body lacks enzyme to metabolize phenylalanine to tyrosine
- brain damage/retardation
- musty odor, seizures, albinoism
Prader Willi
- absence of paternal PWS/AS region 15q11 - q13

- severe hypotonia, feeding difficulties
- later on excessive eating - morbidly obese
- "bubble boy"
- frequent infections - very hard to recover
- absence of B and T cell function at birth
Sickle cell disease
- mutation substituting thymine for adenine
- cells sickle and can no longer become round
- no specific treatment
-hand - foot syndrome in children
Thalassemia A and B
- ineffective RBC production
-impairment in rate of globin chain sythesis - unbalanced alpha and beta chains
- frontal bossing, bone changes in skull, hepatospenomegaly, hyperplenism, pallor, fatique
von willebrand
- von willebrand factor proteins abnormal or absent - usually make blood vessel walls and control plaque activity
Wiskott - aldrich
- presentation in infancy
- triad:
Recurrent bacterial/viral infection