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Genetic Disorders

Gross Genetic Abnormalities

TermDefinition
Congenital disease Present at birth. Genetic or not
Inherited disease Present at birth or can me manifested later in life. Genetic defect
Polygenic genetic disorder Associated with several genes
Mendelian Associated with mutation of only one gene
Aberration Disorder in the number or structure of chromosomes
Trisomy Term used when there are 3 rater than the normal 2 chromosomes
Trisomy 21 Down's Syndrome. Oral manifestations: fissured tongue, macroglossia, premature loss of teeth, Taurodontia
Turner's Syndrome Only 1 X chromosome. Female phenotype. Oral manifestations: failure of teeth to develop normally, abnormally high palate
Phenotype Observable appearance of genotype
Genotype Genetic composition
Klienfelter's Syndrome Boy born with extra copy of the X chromosome. Male phenotype. Oral manifestations: taurodont teeth
Taurodont Teeth appear radiographically to have a large pulp cavity and short roots. Found in disorder such at Down's syndrome and Klienfelter's Syndrome
Created by: turner16
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