Cases in Laboratory Genetics and Genomics (LGG) Practice

Part I Inborn diseases 1. Multiple congenital anomalies 2. Molar pregnancy 3. Sex chromosomal abnormalities 4. Infertility 5. Developmental Delay 6. Consanguinity 7. Imprinting disorders

Part II Hematologic malignancies 8. AML 9. MDS 10. Ph+ leukemia 11. Acute leukaemia with ambiguous lineage 12. Pre B-ALL 13. Mature B cell neoplasms 14. Mature T-cell neoplasms 15. Hodgkin Lymphoma

Part III Solid Tumours 16. Lung cancer 17. Colorectal cancer 18. Melanoma 19. Thyroid cancer 20. Other tumours

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• Genética médica

karyotype; FISH; chromosome microarray; next generation sequencing; syndrome; chromosome abnormality; hydatidiform mole; microdeletion; microduplication; copy number variation; mutation; fusion; hematologic disorders; solid tumors; genomic pathology; genetic testing