[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
2
Q
Developmental anomaly: Physical anomaly
A
Deformation of an anatomical structure
3
Q
Major steps of morphogenesis
A
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
5
Q
Causes of maldevelopments: Genetic origin
A
- Inherited
- Chromosome mutations
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
7
Q
Causes of maldevelopments: Single mutant genes
A
- Mendelian disorders
- No abnormal chromosomal structures
- Inborn errors of metabolism
8
Q
Causes of maldevelopments: Multifactorial inheritance
A
- Additive effect of many genes with small impact
- No abnormal chromosomal structures
- Predisposing environmental influences
9
Q
Causes of maldevelopments: Abnormalities of chromosomal structure
A
- Abnormal number of chromosomes
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
- Accumulation of precursors
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
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
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