Pathology Ch 5

Card Set Information

Author:
zf2010
ID:
101604
Filename:
Pathology Ch 5
Updated:
2011-09-14 02:29:20
Tags:
USUHS Pathology Genetic Disorders
Folders:

Description:
USUHS Pathology Genetic Disorders
Show Answers:

Home > Flashcards > Print Preview

The flashcards below were created by user zf2010 on FreezingBlue Flashcards. What would you like to do?


  1. Marfan Syndrome
    • Autosomal Dominant
    • Defect in fibrillin-1 (connective tissue disorder)
    • Skeletal abnormalities - tall, lax joints
    • Ocular changes - ectopia lentis
    • Cardiovascular lesions - aortic dilation, mitral prolapse
  2. Ehlers-Danlos Syndromes
    • Autosomal Dominant or Recessive
    • Defect in fibrillar collagen synthesis or structure
    • Hyperextensible skin
    • Hypermobile joints
  3. Familial Hypercholesterolemia
    • Autosomal Dominant
    • Defect in receptor for LDL
    • Elevated cholesterol leads to premature atherosclerosis
    • *Statins - inhibit HMG CoA reductase, lowering cholesterol synthesis, increasing LDL synthesis
  4. Lysosomal Storage Diseases
    Defects in enzymes essential for normal lysosome function
  5. Tay-Sachs Disease
    • Lysosomal Storage Disease
    • Autosomal Recessive
    • Accumulation of Gm2 gangliosides
    • Most commonly failure of hexosaminidase A
    • Accumulation in many tissues - clinically in CNS, ANS and retina
    • Progressive destruction of neurons
    • *Cherry red dot on macula
  6. Niemann-Pick Disease (A, B)
    • Lysosomal Storage Disease
    • Autosomal Recessive
    • Deficiency of sphingomyelinase
    • Accumulation of Sphingomyelin
    • Massive Splenomegaly
    • Shrunken gyri, widened sulci
    • Type A - severe infantile form (CNS pathology)
    • Type B - Orangomegaly without CNS pathology
  7. Niemann-Pick Disease Type C
    • Lysosomal Storage Disease
    • Autosomal Recessive
    • Failure in lipid transport out from lysosomes
    • Cholesterol and ganglioside accumulation
  8. Gaucher Disease
    • Lysosomal Storage Disease
    • Autosomal Recessive
    • Affects phagocytes, sometimes CNS
    • Accumulation of glucocerebroside
    • Distended phagocytes called Gaucher Cells
    • Progressive neural destruction
  9. Mucopolysaccharidoses
    • Lysosomal Storage Disease
    • Autosomal and X-linked Recessive
    • Accumulation of glycosaminoglycans
    • Coarse facial features, corneal clouding, joint stiffness, mental retardation
    • Hepatospenomegaly, skeletal deform., CNS lesions
  10. Glycogen Storage Diseases
    • Autosomal Recessive
    • Deficiency in an enzyme involved in synthesis or sequential degradation of glycogen
  11. Alkaptonuria (Ochronosis)
    • Autosomal Recessive
    • Accumulation of homogentisic acid (pigment) in body
    • Deposits in cartilage - more brittle and fibrillated
  12. Mosaicism
    Mitotic erros in early development giving rise to two or more population of cells with different chromosomal complements in one individual
  13. Trisomy 21
    • Usually maternal nondisjunction
    • Common: congenital heart disease, leukemia, Alzheimer's disease, immune abnormalities
  14. Edwards Syndrome
    • Trisomy 18
    • Severe malformations - congenital heart defects, renal malformations, mental retardation
  15. Patau Syndrome
    • Trisomy 13
    • Severe malformations - microcephaly, cleft lip/palate, polydactyly, cardiac defects, renal defects
  16. Chromosome 22q11.2 Deletion Syndrome
    • Congenital heart defects
    • Palate abnormalities
    • Facial dysmorphism
    • Developmental delay
    • T-cell immunodeficiency
    • Hypocalcemia
    • High risk of psychotic illness
  17. Lyon hypothesis
    • Only one X chromosome is activated in each cell
    • Inactivation of either X occurs at random in blastocyst
    • All cells derived from same precursor cell share same X inactivation
  18. Klinefelter Syndrome
    • 47 XXY
    • Male hypogonadism, infertility
  19. Turner Syndrome
    • 45 X
    • Female hypogonadism
    • Short
    • Coarctation of aorta
    • Infertility
    • Abnormal sex characteristics
  20. Complete androgen insensitivity syndrome
    • Form of male pseudohermaphroditism
    • Defect in androgen action
  21. Fragile-X Syndrome
    • X-linked Recessive
    • Long unstable repeating sequence of 3 nucleotides
    • Macro-orchidism (large testes)
    • Mental retardation
  22. Prader-Willi syndrome
    • Deletion on paternal chromosome 15
    • Mental retardation, short, hypotonia, hyperphagia
    • Obesity, small hands/feet, hypogonadism
  23. Angelman syndrome
    • Deletion on maternal chromosome 15
    • Mental retardation, ataxic gait
    • Seizures
    • Inappropriate laughter

What would you like to do?

Home > Flashcards > Print Preview