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