Genetics: Cytogenetics

Genetics: Cytogenetics — Expert Atlas

How it begins

Chromosome structure and organization, banding techniques, ISCN 2020 nomenclature, numerical and structural anomalies, mosaicism, molecular cytogenetics (FISH, arrays, NGS), and applications in prenatal diagnosis and oncohematology.

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