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76 Cards in this Set

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

note less common than Down Syndrome
76. What are the 3 most common X-linked recessive disorders?
a. Fragile X
b. Hemophillia A
c. Duchenne-Becker muscular dystrophy
77. What is Vitamin D-resistant rickets?
a. Deficient renal and GI absorption of phosphate
b. Causes osteomalacia (deficient bone mineralization)
c. X-Linked dominant
78. What is Alport’s syndrome?
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