Lecture Summary: Genetic Disorders Flashcards

1
Q

a characteristic group of signs and symptoms that occur together in one patient

A

syndrome

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2
Q

a person’s (or a plant’s, or an animal’s) genetic makeup

A

genotype

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3
Q

the observable, physical evidence of one’s genotype (eye color, height)

A

phenotype

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4
Q

humans have __ chromosomes that are in ____ pairs

A

46, 23

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5
Q

of the 23 pairs, ___ are autosomal and __ pair is the sex chromosome

A

22, 1

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6
Q

chunk of DNA that contains the instructions for making a specific protein

A

gene

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7
Q

a change in the structure of a gene

A

mutation

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8
Q

mutations can be…

A

totally silent, non-problematic, or problematic

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9
Q

autosomal dominant inheritance (AD)

  • disease allele is ____
  • only need ____ to get disease
  • other allele can be normal, but you (will/will not) get disease
A
  • dominant
  • one copy of allele
  • will
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10
Q

autosomal recessive inheritance (AR)

  • disease allele is ____
  • you need to inherit ____ disease alleles (one from ___ and one from ___)
  • if you inherit _____________, you won’t get the disease
A
  • recessive
  • two; mom, dad
  • one disease allele and one normal allele
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11
Q

X-linked recessive inheritance (XLR)

  • disease all is ____ on the __ chromosome
  • males are ___ likely to get this type of disease
  • females ____ get x-linked disease, but can be ____
A
  • recessive, X
  • more
  • almost never, carriers
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12
Q

inheritance pattern for clefting disorders can be ______

A

AD, AR, XLR

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13
Q

Clefting usually happens in _____ or _________ (____cleft palate is rare)

A

the lip or in both the lip and palate, isolated

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14
Q

When clefting is limited to the lip, it’s usually _____, and usually on the ___ side

A

unilateral, left

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15
Q

pierre robin sequence characteristics

A

small mandible
cleft palate
glossoptosis (tongue is retracted)

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16
Q

papillon-LeFevere syndrome inheritance pattern

A

AR

17
Q

papillon-LeFevere syndrome characteristics

A
  • patients get lots of infections
  • bad periodontitis with “floating teeth”
  • patient lose all teeth by teenage years
18
Q

cherubism inheritance pattern

A

AD

19
Q

cherubism characteristics

A
  • “cherub-like” face with large cheeks
  • enlarged posterior mandible
  • tooth displacement
20
Q

most common inherited bone disease

A

osteogenesis imperfecta

21
Q

osteogenesis imperfecta inheritance pattern

A

AD, AR (can also occur via mutation)

22
Q

osteogenesis imperfecta characteristics

A
  • caused by mutation in type I collagen
  • weak, deformed bones
  • blue sclera
  • opalescent teeth
23
Q

neurofibromatosis inheritance pattern

A

AD, mutation

24
Q

neurofibromatosis characteristics

A
  • patients have neurofibromas that can be disfiguring
  • cafe-au-lait skin spots, nodules
  • enlarged mandible
25
Q

neurofibromas are tumors of the _____

A

nerve sheath

26
Q

peutz-jeghers syndrome inheritance pattern

A

AD

27
Q

peutz-jeghers syndrome characteristics

A
  • intestinal polyps

- oral lesions that are brown spots in and around mouth

28
Q

amelogenesis imperfecta inheritance pattern

A

AD, AR, XLR

29
Q

amelogenesis imperfecta characteristics

A
  • problem in enamel formation

- enamel that is pitted, mottled brown, or very white

30
Q

dentin dysplasia inheritance pattern

A

AD

31
Q

dentin dysplasia characteristics

A

type 1: rootless teeth that are easily fractured

type 2: normal root length, but enlarged pulp