Genetics: Cytogenetics

Genetics: Cytogenetics — Expert Atlas

How it begins

Estructura y organización cromosómica, técnicas de bandeo, nomenclatura ISCN 2020, anomalías numéricas y estructurales, mosaicismo, citogenética molecular (FISH, arrays, NGS), y aplicaciones en diagnóstico prenatal y oncohematología.

What it covers

1. History of Cytogenetics and Fundamentals of the Human Karyotype
2. · 1.1 Fundamental Historical Milestones
3. · 1.2 Chromosome Morphology: Classification
4. Molecular Structure of the Chromosome
5. · 2.1 Telomeres
6. · 2.2 Centromere
7. · 2.3 Heterochromatin and Euchromatin
8. · 2.4 Nucleolus Organizing Regions (NOR)
9. Cell Cycle, Mitosis, Meiosis and Non-Disjunction
10. · 3.1 The Cell Cycle and its Control Points
11. · 3.2 Mitosis: Phases and Chromosome Segregation
12. · 3.3 Meiosis: Recombination and Non-Disjunction
13. · 3.4 Effect of Maternal Age on Non-Disjunction
14. Chromosome Banding Techniques
15. · 4.1 G banding (Giemsa after digestion with trypsin)
16. · 4.2 Other Banding Techniques
17. · 4.3 Preparation of Chromosomes: From Culture to Karyotype
18. ISCN Nomenclature 2020: International System of Chromosome Nomenclature
19. · 5.1 Basic Structure of the Karyotype Formula
20. · 5.2 Numerical Anomalies in ISCN
21. · 5.3 Structural Anomalies in ISCN — Detailed Nomenclature
22. Numeric Chromosomal Anomalies
23. · 6.1 Polyploidy
24. · 6.2 Aneuploidies — Overview
25. · 6.3 Viable Trisomies: Detailed Description
26. Structural Chromosomal Anomalies
27. · 7.1 Mechanisms of Formation of Structural Anomalies
28. · 7.2 Types of Structural Anomalies
29. Mosaicism: Types, Diagnosis and Clinical Relevance
30. · 8.1 Types of Mosaicism and Their Clinical Consequences
31. · 8.2 Quantification of Mosaicism and Limits of Detection
32. Molecular Cytogenetics: FISH, Arrays and Sequencing
33. · 9.1 FISH (Fluorescence In Situ Hybridization)
34. · 9.2 Comparative Genomic Hybridization Array (aCGH) and SNP Array
35. · 9.3 Comparison of Cytogenetic Platforms
36. Prenatal Cytogenetics
37. · 10.1 Indications for Invasive Prenatal Cytogenetic Diagnosis
38. · 10.2 Cytogenetic Prenatal Diagnostic Techniques
39. · 10.3 Prenatal QF-PCR
40. Oncological Cytogenetics: Translocations, Inversions and Prognostic Markers
41. · 11.1 The Philadelphia Chromosome: Paradigm of Oncogenetics
42. · 11.2 Recurrent Translocations in Leukemias and Lymphomas
43. · 11.3 Cytogenetic Abnormalities with Prognostic Value in AML and MDS