[C] 1.66 Causes of developmental anomalies (formal and causal genesis) Flashcards

1
Q

Developmental anomaly: Congenital anomaly

A

“Birth defect”

  • Disorder present at birth
  • Result of an inherited gene mutation
  • Error during morphogenesis or foetal development
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2
Q

Developmental anomaly: Physical anomaly

A

Deformation of an anatomical structure

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3
Q

Major steps of morphogenesis

A
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4
Q

Causes of maldevelopments “Causal genesis”

A
  • Genetic origin
    • Single mutant genes of large effect
    • Multifactorial inheritance
    • Abnormalities of chromosomal structure
  • Non-genetic origin
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5
Q

Causes of maldevelopments: Genetic origin

A
  • Inherited
  • Chromosome mutations
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6
Q

Causes of maldevelopments: Non-genetic origin

A
  • Prenatal viral, bacterial, parasitic infection
    • Panleukemia, BVD
  • Intrauterine exposure to poisons
    • Thalidomide, molybdenum, toxic plants
    • Timing of the effect is more important than the effector
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7
Q

Causes of maldevelopments: Single mutant genes

A
  • Mendelian disorders
  • No abnormal chromosomal structures
  • Inborn errors of metabolism
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8
Q

Causes of maldevelopments: Multifactorial inheritance

A
  • Additive effect of many genes with small impact
  • No abnormal chromosomal structures
  • Predisposing environmental influences
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9
Q

Causes of maldevelopments: Abnormalities of chromosomal structure

A
  • Abnormal number of chromosomes
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10
Q

Proteins as mutant gene products

A
  • Missing enzymes
    • Accumulation of precursors
      • Lipid storage disease
      • Mucopolysaccharidosis - Siamese cat
      • Glycogen storage diseases
    • Deficiency of end products
      • Albinism
    • Accumulation of toxic byproducts
      • Phenylketonuria
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11
Q

Multifactorial inheritance disorders

A
  • Polydactyly (Simmental cattle)
  • Porcine encephalocele

Multiple defects transmitted together:

  • Cyclic hematopoiesis in grey collies
    • Mainly neutrophils disappear in 11 day cycles
    • Abnormal grey silver colour
    • Microphthalmia
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12
Q

Chromosomal defects: Abnormal chromosomal numbers

A
  • Trisomy 17 in cattle
    • Brachygnathia
  • Trisomy 21 in humans
    • Downs syndrome
  • XO monosomy in horses
    • Turner syndrome in humans, pig, cats, sheep
  • XXY males
    • Klinefelter’s syndrome in human
    • Tortoiseshell male cats
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13
Q

Developmental anomalies: Virus induced congenital lesions

A
  • Parvovirus
    • Kitten - Cerebellar hypoplasia
  • Influenza virus
    • Chicken - Microencephaly
  • BVD
    • Calves - Cerebellar hypoplasia
  • Swine fever virus & border disease virus
    • Piglets & lambs - Cerebellar hypoplasia
  • Atypical porcine pestivirus
    • Congenital tremor
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