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76 Cards in this Set
- Front
- Back
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1. Malformation versus deformation
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a. Malformation: cells not migrating to the right place
b. Deformation: external stressors causing a change in fetal development |
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2. What causes developmental disorders?
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a. Teratogens
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3. What are the 2 basic types of teratogens and an example of each
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a. Chemical: EtOH
b. Biological: TORCH complex (typically infectious) |
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4. What are the 2 main types of abnormality in chromosomes?
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a. Number and structure
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5. What are the 2 causes of chromosomal abnormalities of number?
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a. Nondisjunction (meiosis) and Mosaicism (mitosis)
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6. What is Nondisjunction
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a. Errors in separation of chromosomes during meiosis
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7. What is Mosaicsm?
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a. Errors in separation of chromosomes during mitosis
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8. What are the 2 chromosomal abnormalities in structure?
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a. Translocations
b. Deletions |
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9. What do teratogens do? Some examples?
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a. disrupt normal embryologic development
b. toxins, infections |
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10. What is the cause of most birth defects?
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a. It is actually unknown
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11. What is agenesis
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a. No creation of something (such as agenesis of left kidney)
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12. Aplasia
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a. No change in the form/nature of the structure
b. Persistence of immature form (aplasia kidney would be an undeveloped kidney) |
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13. Hypoplasia
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a. Reduced size from incomplete development
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14. Dysraphic anomaly
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a. Failure of apposed structures to fuse
b. Ex: think of when the spine fuses, if doesn’t you get spina bifida |
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15. Involution failure
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a. Failure of a structure to disappear
b. Think webbing of the feet… |
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16. Division failure
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a. Incomplete cleavage of cells
b. Such as Siamese twins |
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17. Atresia
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a. Incomplete formation of lumen or tubular structure
b. Such as esophagus, could see baby with projectile vomit |
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18. Dysplasia
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a. THIS IS NOT NEOPLASTIC HERE
b. Abnormal histogenesis c. Tissues don’t form normally |
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19. Ectopia/heterotropias
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a. Organs/tissues situated outside of normal location
b. Ex: Liver tissue found in gut |
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20. Dystopia
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a. Inadequate migration of an organ that stays in developmental location
b. Ex: undecended testi |
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21. In Fetal alcohol syndrome, what are the characteristic facies?
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a. Microcephaly; epicanthal folds; short palpebral fissure; maxillary hypoplasia; thin upper lip; poorly formed philtrum
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22. What heart issues will you see in FAS?
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a. Cardiac septal defects
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23. Is FAS a primary genetic factor?
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a. No, it is due to environmental exposure
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24. What is TORCH?
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a. Infectious agents (TORCH)
b. Toxoplasma c. Other (syphilis, varicella-zoster, EBV, TB) d. Rubella e. CMV (cytomegalovirus) f. Herpesvirus (HSV 2) |
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25. If you have chromosomal abnormalities that arise during somatic cell division (mitosis) what do you have?
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a. Mosaicism
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26. If you have chromosomal abnormalities that arise during meiosis (gametogenesis) what cells will be effected?
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a. Alterations are passed on to all cells in developing embryo and are inherited
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28. What is a deletion?
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a. Loss of a portion of the short (p) or long (q) arm of a chromosome
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29. What is a translocation?
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a. Transfer of genetic material between non-homologous chromosomes
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30. How do you designate a translocation say for 12p and 21q
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a. T(12p,21q)
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31. What is a Robertsonian translocation?
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a. Lose a chromosome, but the function can be normal
b. Due to uneven translocation, and one chromosome is lost in the switch |
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32. What is the most common cause of congenital retardation?
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a. Trisomy 21: Down Syndrome
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33. Is Down Syndrome normally inherited?
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a. Not typically
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34. What are the 3 scenarios that cause Trisomy 21
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a. Nondisjunction (most common), translocation, mosaicism
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35. What are some of the characteristic features of down syndrome
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a. Typical facies, large ears, big tongue
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36. What is Klinefelter’s Syndrome?
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a. 47 XXY
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37. In Klinefelter’s what is the phenotypic sex?
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a. Male
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38. What is the level of hormones like in Klinefelter’s syndrome?
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a. Serum testosterone is low, FSH and LH are high
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39. What is Turner’s Syndrome (chromosomal)
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a. 45 X
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40. What is lost in Turner’s syndrome?
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a. Complete or partial loss of one X
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41. What is the clinical hallmark of Turner’s syndrome?
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a. Sexual infantilism
b. Primary amenorrhea and infertility |
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42. What are some of the physical characteristics of someone with Turner’s syndrome?
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a. Short stature, webbed neck, poor secondary sexual characteristics
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43. What is a mutation
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a. Permanent change in DNA that can be inherited
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44. What is an epigenetic change?
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a. Change in DNA that is not inherited
b. Think methylation of DNA |
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45. What is a point mutation?
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a. Change in single nucleotide
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46. What is a silent mutation?
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a. Point mutation with no observable effect
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47. What is a missense mutation?
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a. Change one aa to another
b. Sickle cell trait/disease |
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48. Nonsense mutation?
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a. Code for a stop codon, gene is shortened
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49. What is a frameshift mutation?
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a. Insertion or deletion of nucleotide changes the reading frame (ex: tay-Sachs)
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50. Trinucleotide repeat?
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a. Abnormal amplification of 3-nucleotide sequences
b. Seen in Huntingtons (CAG) c. Severity related to the number of repeats |
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51. Autosomal dominant disorders usual show deficiencies in what?
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a. Structural proteins (like Marfans)
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52. In autosmal recessive disorders, you see deficiencies in what?
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a. Enzymes
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53. In sex linked recessive, which sex is more effected
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a. Males
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54. What is codominance
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a. Both alleles in the gene pair are expressed equally
b. Best example is ABO blood types |
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55. What is penetrance?
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a. To what extend or degree are the genes expressed
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56. What is Marfan’s syndrome? Mutation is where?
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a. Mutation in fibrillin-1
b. Will see someone who is tall and slender with arachnodactyly |
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57. What heart issues may you see in Marfans?
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a. Weakness in tunica media of aorta: prone to aortic dissection, aneurysm, rupture
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58. What visual problems may you see in Marfans?
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a. Dislocation of the lens (ectopia lentis), severe myopia, retinal detachment
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59. What is Ehlers-Danlos syndrome a problem with?
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a. Collagen mutation
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60. What are the symptoms of people with Ehlers-Danlos
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a. Hyperelasticity and fragility of skin; joint hypermobility; bleeding diasthesis (bleeding disorders)
b. Kyphoscoliosis in some forms |
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61. What are the two types of neurofibromatosis?
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a. NF1: von Recklinghausen disease
b. NF2: central neurofibromatosis |
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62. What is NF1 (von Recklinghausen disease)
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a. Neurofibromas; dark pigmentation of skin (café-au-lait spots); pigmented lesions of iris
b. Relatively common c. Chromosome 17 |
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63. What is NF2 (“central” neurofibromatosis)
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a. Less common than NF1
b. Chromosome 22 (same as what from immuno? Lambda!) c. Bilateral acoustic schwannomas (8th cranial nerve, scwann cells only!) d. May have neurofibromas, meningioma, glioma Type 2, chrome 22, bilateral |
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64. Do autosomal recessive disorders often cause an abnormal phenotype?
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a. No, just a carrier
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66. What is Cystic Fibrosis
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a. most common lethal autosomal recessive disorder
b. Chloride ion channel --> mutations results in defective transport of Cl- across cell membranes of exocrine gland epithelial cells c. Result is excessive chloride is perspiration; excessively thick mucous secretions that may clog exocrine ducts |
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65. What is the most common lethal autosomal recessive disorder?
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a. Cystic Fibrosis
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67. What is the major sign/cause of death for cystic fibrosis
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a. Pulmonary disease: get lots of infections and pulmonary hypertension
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68. What happens to the pancreas in CF?
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a. Chronic pancreatitis, fibrosis
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69. What is Cor Pulmonale? When do you see it?
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a. Heart disease caused by severe pulmonary hypertension
b. Leads to right heart failure c. Seen in Cystic Fibrosis |
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70. What are lysosomal storage diseases? Are they autosomal dominant or recessive?
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a. AS recessive
b. Defects in lysosomal hydrolases c. Get accumulations of materials such as sphingolipids, mucopolysaccharides, etc. |
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71. What is Gaucher disease a representative example of?
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a. Lysosomal Storage Disease
b. Deficiency in glucocerebrosidase c. Get enlargement of spleen and bone marrow failure |
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72. If you see a question that indicates that there is an accumulation of some material, what should you be thinking?
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a. That there is insufficiency in some enzyme to break it down
b. So it is autosomal recessive |
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73. What is Tay-Sachs disease? (not likely on our test)
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a. Seen in Jews
b. GM2 ganglioside accumulates in lysosomes c. Most prominently in neurons of brain and cells d. Cherry-red spots in macula on eye exam e. Autosomal Recessive disorder |
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75. What is the most common form of INHERITED mental retardation? (WILL BE ON TEST)
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a. Fragile X syndrome
b. Caused by trinucleotide repeat note less common than Down Syndrome |
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76. What are the 3 most common X-linked recessive disorders?
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a. Fragile X
b. Hemophillia A c. Duchenne-Becker muscular dystrophy |
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77. What is Vitamin D-resistant rickets?
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a. Deficient renal and GI absorption of phosphate
b. Causes osteomalacia (deficient bone mineralization) c. X-Linked dominant |
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78. What is Alport’s syndrome?
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a. Hereditary glomerulonephritis: hematuria and progression to chronic renal failure
b. Nerve deafness c. Males express full disorder; females are typically limited to hematuria (may act more like carriers) X Linked Dominant |
