550 exam 3

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  1. X linked dominant
    No male to male transmission

    All affected males pass to daughters

    • Rett syndrome is example
    • neurodevelopmental disorder, loss of spoken language, gait
  2. Mitochondrial symptomatology
    Always inherit mother's

    Nervous system, eyes, skeletal muscle, heart, liver, GI, kidneys, pancreas
  3. Multifactorial inheritance
    • Recur in families
    • do not follow patterns
    • multiple genes/environmental factors
    • more common among close relatives
    • high incidence vs mutations

    ex: cleft lip/palate, heart defects, neuroal tube defects
  4. Concordance and Discordance in twins
    • Concordance: both have it
    • Discordance: one has it

    Greater concordance in identical twins vs fraternal is evidence of genetic component
  5. Trisomy 18
    elongated head, clenched hands, horshoe kidney, epicanthal folds, language decreased, early death from heart problems, seizures, some live into 20's
  6. Trisomy 13
    cleft lip/palate, sloping forehead, heart defects, development delays. Most die within first year

    Mosaic trisomy 13: only trisomy in some cells
  7. Cri du chat syndrome
    • Sounds like crying cat
    • deletion on chromosome 5
    • slanted eyes, changes at epiglottis and vocal cords
  8. Turner syndrome
    • 45 X
    • Reduced life expectancy, usually by heart stuff
  9. 47 XXX
    • Tall, no malformation patterns
    • delay in motor milestones, poor coordination
    • language problems
    • usually require special ed
  10. 47 XXY
    • Klinefelter syndrome
    • Male phenotype, long legs, obese usually later on, small genitals
  11. 47 XYY
    Usually behavioral problems, long fingers
  12. Prader Willi Syndrome
    • Deletion on 15
    • Hypotonia, obesity, small hands and feet, hypogonadism
  13. Angleman syndrome
    • maternal deletions of 15
    • seizures, developmental delay, ataxic gait
  14. Marfan syndrome
    affects connective tissue. Affects bones, joints, lungs, eyes, heart and vessels
  15. Phenylketonuria (PKU)
    intellectual disability, microcephaly, speech problems, seizures, behavior issues. Normal if treated

    • example of an aminoacidopathy
    • testing, plasma amino acids or urine organic acids
  16. Maple syrup urine disease
    build up of branched chain amino acids that can't be broken down. leucine is neurotoxic

    presents early, poor feeding, vomiting, seizures, stroke, coma. 

    Normal if treated early
  17. Urea cycle disorders
    • build up of ammonia because of problem somewhere in cycle
    • all autosomal recessive except OTC deficiency (x-linked)
    • restrict protein in diet
  18. Organic acidemias
    • metabolic acidosis with ketosis and elvated anion gap
    • can mimic sepsis
    • poor feeding, lethargy, vomiting, coma
    • low rotein diet

    testing: Urine organic acids, plasma amino acids can work, and plasma acylcarnitines (PAC)
  19. Fatty acid oxidation defects
    • low ketones
    • related to SIDs because can't mobilze energy through night
    • autosomal recessive
    • frequent feedings to treat, lower fat diet, high carb

    testing: plasma acylcarnitines is good
  20. Carbohydrate metabolism galactosemia
    • build up of galactose
    • enlarged liver, kidney damage, brain damage, cataracts
    • treatment is complete galactose/lactose restrition
    • speech/language therapy
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550 exam 3
2015-08-16 19:36:47

550 exam 3
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