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The subject aims at mastering selected genetics principles in stomatology. Genealogy, types of inheritance,
monogenic traits, multifactorial inheritance. Structure and function of chromosomes, karyotype. Numerical and
structural aberrations. Mutations, mutagens, molecular basis of inherited disease. Teratogenesis, inborn
developmental diseaes, oncogenetics. Genetic counselling. Genealogical analysis, counselling for hereditary
diseases and syndromes of the orofacial area.
Last update: Kolářová Jana (31.01.2020)
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The subject aims at mastering selected genetics principles in stomatology. Last update: Kolářová Jana (31.01.2020)
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http://ublg.lf1.cuni.cz/en/recommended-literature Last update: KOT02392 (03.01.2014)
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1. Syndromology a symptomatology - Introduction 2. Diagnosis 3. Amelogenesis imperfecta, dentinogenesis imperfecta and osteogenesis imperfecta- symptomatology and syndromology 4. Families with multiple teeth retention 5. Haydu - Cheney syndrome 6. Prenatal diagnostics, syndromology a symptomatology amniocentesis and ultrasound, fetal echocardiography 7. Pachydermoperiostosis 8. Congenital spine deformities and rare syndromes 9. Bone and tooth dysplasias, oligodontia, hypodontia and anodontia; celidocranial dysplasia and low bone dnesity, biomechanice and clinical aspects; mucopolysaccharidoses and oligosaccharidoses, multiple cartilagenous exostoses, enchondromatosis, osteopetrosis and pycnodysostosis; Exomphalos-Macroglossia-Gigantism Syndrome, Parkes - Weber - Klippel - Trenaunay syndrome, hemihypertrophy aand asymetry, genetic consultation 10. Goldenhar syndrome and related syndromes, abnormal vertebral segmentation, Klippel -Feil anomaly, Jarcho - Levin syndrome, facioauriculovertebral spectrum comprising spectrum hemifacial microsomia,VACTERL, VATER, NTD, anencephaly, ecephalocoele, Poland-Moebius syndrome 11. Rheumatology and genetics 12. Haematology and genetics 13. Basocellular nevus syndrome 14. Arthrogryposis multiplex congenita. 15. Duchenne myopathyand its prenatal diagnostics 16. Pierre- Robin anomaly 17. Cerebrocostomandibular syndrome. 18. Syndromology of situs viscerum inversus. Last update: Kolářová Jana (31.01.2020)
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