genetics and pathobio 2 Flashcards

1
Q

what is spectrum of dysmorphic phenotypes

A

minor to major anomalies

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2
Q

def. minor anomalies

A

unusual anatomic feature that is of no consequence to PT

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3
Q

2 types of major anomoalies

A
  1. primary - malformation

2. secondary - disruption or deformation

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4
Q

what is 3 or more minor anomalies

A

points to covert anomalies or syndromic diagnosis

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5
Q

def. malformation

A

morphological defect of an organ resulting from an intrinsically abnormal dev. process

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6
Q

def. disruption

A

morphological defect resulting from the extrinsic breakdown or interference with a normally developing process

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7
Q

def. deformation

A

abnormal shape or form caused by mechanical forces

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8
Q

def. dysplasia

A

abnormal organisation of cells into tissue

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9
Q

2 classes of birth defects

A
  1. single

2. multiple

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10
Q

3 types of multiple defects

A
  1. sequence
  2. syndrome
  3. association
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11
Q

def. sequence

A

a pattern of multiple anomalies derived from a single known or presumed underlying prior anomaly (like ogliohydramnoes)

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12
Q

def. association

A

non-random occurence of indep. malformations whose etiology is unknown - eg. VACTERL

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13
Q

def. syndrome

A

recognized pattern of dev. independent malformations from one etilogy (eg. down’s syndrome)

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14
Q

check out the matching things

A

mmm. hmm…

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