Clark Flashcards

1
Q

Deformation

A

abnormal mechanical force

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2
Q

Breach position results in what?

A

dislocated hip

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3
Q

Transverse lie results in what?

A

Micrognathia (facial compression)

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4
Q

Malformation

A

anomaly caused by intrinsic factors that result in abnormal tissue or defective morphogenesis

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5
Q

What are 4 malformations?

A
  1. Adams Oliver syndrome
  2. Isolated neural tube defect
  3. Isolated cleft lip/palate
  4. Vander Woude syndrome
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6
Q

What is a syndrome?

A

recognizable pattern of anomalies w/a single cause

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7
Q

What are some examples of syndromes?

A
  1. Aarskog syndrome
  2. Cornelia de Lange syndrome
  3. Kabuki syndrome
  4. Aneglman syndrome
  5. Rett syndrome
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8
Q

What is dysplasia?

A

a pattern of malformations affecting the same tissue type

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9
Q

What are 2 dysplasias?

A
  1. X-linked ectodermal dysplasia: plot teeth, thin hair, patchy sweating
  2. Skeletal dysplasia: achondroplasia, osteogenesis imperfecta
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10
Q

What is an association?

A

pattern of abnormalities that occur together more often than expected by chance

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11
Q

What is the most common association?

A
VATER
VSD
Vertebral defects
imperforate Anus
Tracheo-esophageal fistula
Radial
Renal
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12
Q

What is a sequence?

A

pattern of anomalies in which a primary defect leads to one or more secondary defects

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13
Q

What is one sequence?

A

Holoprosencephaly: lack of cupid’s bow –> lack of midline frenulum –> single incisor –> deletion of sonic hedge hog –> single nostril

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14
Q

What are some common deletion syndrome?

A
  1. Wolf-Hirshhorn syndrome
  2. Prader-Willi syndrome
  3. Velo-cardio-facial syndrome
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15
Q

What is the kilo base limit for deletions to be able to be detected using high resolution chromosome studies?

A

5000

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16
Q

Array CGH

A

Detects copy number variations (deletions and duplications)
Finer resolution of breakpoints
Cannot detect balanced rearrangements