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27 Cards in this Set
- Front
- Back
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Angelman syndrome
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-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 |
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Atherosclerosis
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blood vessel walls thicken, harden and lose elasticity
- usually accumulate lipids |
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Burkitt lymphoma
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- malignant lymphoma,
- osteolysis lesions of facial bones - associated with Epstein Barr virus |
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Cri du chat
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- normal life expectancy
- problems with larynx at development - deletion on short arm chromosome 5 - low birth wt, resp problems |
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Cystic fibrosis
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- 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 |
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DiGeorge syndrome
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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 |
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Disseminated intravascular coagulopathy (DIC)
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- blood clots through out the body
- depletion of platelets and coagulation factors increases risk of hemorrhage |
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Down Syndrome
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trisomy 21
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Duchenne muscular dystrophy
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- progressive muscle wasting
- mutation affects how nerve cell sends and receives signals |
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Edwards syndrome
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trisomy 18
- cardiac defects, difficulty breathing -Not compatible with life |
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Hemophilia A and B
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A - factor 8
B - factor 9 (Christmas disease) easy bruising massive hemorrhages need to measure joints for possible bleeding |
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Herpes
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- virus spread even when sores not visible
- outbreaks several times a year - virus remains in body - hidden in nerve cells |
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HIV
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- viral killing of CD 4 cells
- no immune regulation for protection |
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Huntingtons disease
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- CAG repeats
- produce Huntingtin protein - causes brain damage - the more CAG repeats, the more damage |
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Idiopathic thrombocytopenia plura
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bleeding disorder - blood doesnt clot as should
Idiopathic = cause unknown Thrombocytopenia = decrease in number of platelets Plura = purple dots on skin caused by bleeding |
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Lupus
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- most common in young females
- joint pain, fever, facial rash, proteinuria, hematuria - very slow onset - low levels complement and immune complexes |
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Marfan
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- connective tissue disorder
- cardiovascular lesions: aortic distention - mutation on chromosome 15 |
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Mononucleoisis
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- B cells harbor EBV
- asymptomatic for life - onset over several days - most severe sympton = splenomegaly |
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Neurofibromatosis
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- causes tumors to grow on nerves
- can also affect development of bone and skin - nearly 100% penetrance -NF gene on chromosome 17 |
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Patau
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trisomy 13
- survival beyond 1 year uncommon - polydactyl, cleft palate, eyes dont seperate, cardiac defects |
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Phenylketonuria (PKU)
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- genetic disorder
- body lacks enzyme to metabolize phenylalanine to tyrosine - brain damage/retardation - musty odor, seizures, albinoism |
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Prader Willi
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- absence of paternal PWS/AS region 15q11 - q13
- severe hypotonia, feeding difficulties - later on excessive eating - morbidly obese |
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SCID
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- "bubble boy"
- frequent infections - very hard to recover - absence of B and T cell function at birth |
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Sickle cell disease
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- mutation substituting thymine for adenine
- cells sickle and can no longer become round - no specific treatment -hand - foot syndrome in children |
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Thalassemia A and B
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- 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 |
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von willebrand
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- von willebrand factor proteins abnormal or absent - usually make blood vessel walls and control plaque activity
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Wiskott - aldrich
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- presentation in infancy
- triad: Recurrent bacterial/viral infection Bleeding/thrombocytopenia Eczema |
