Term
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Definition
the science of human biologic variation
as it relates to health and disease.
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Term
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Definition
- The science and practice of diagnosis, prevention, and management of genetic disorders.
- the part of medical genetics concerned with the health of individual humans and their families.
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Term
Types of Genetic Diseases..... |
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Definition
1) Single-Gene Defects
2) Chromosomal Disorders
3) Multifactorial Disorders |
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Term
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Definition
- type of genetic disease in which a single gene is altered
- Mendelian Disorders: Nuclear Genome
- Mitochondrial Disorders: Disorders due to alterations of cytoplasmic mitochondrial chromosome
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Term
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Definition
- type of genetic disease where an entire chromosome, are missing, duplicated, or otherwise altered.
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Term
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Definition
- type of genetic disease due to multiple genetic and environmental factors that result in many congenial malformation and man common disorders of adult life.
MOST COMMON TYPE OF GENETIC DISEASE!
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Term
Clinical Impact of Genetic Disease |
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Definition
- Cause of approximately 50% of childhood deaths in various hospitals.
- 25% of pediatric hospital admissions
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Types of Congenial Anomalies |
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Definition
- Malformation: Poor Formation of Tissue
- Deformation: Unusual Forces on Normal Tissue -good potential for rehab
- Disruption: Breakdown of Normal Tissue
- Dysplasia: Abnormal Organization of cells in tissues
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