Cytogenetics Course

Lesson 1 • Mendelian and Non-Mendelian Inheritance

Reviews segregation, dominance, and exceptions such as incomplete dominance and codominance. Prepares learners to interpret pedigrees and inheritance patterns.

Lesson 2 • Meiosis and Genetic Recombination

Contrasts meiosis I and II with mitosis and explains crossing over. Grounds learners in the source of chromosomal variation and segregation errors.

Lesson 3 • DNA Structure and Replication

Examines the double-helix model and semi-conservative replication. Links DNA fidelity to chromosomal stability throughout the chapter.

Lesson 4 • Cell Structure and Function Review

Covers eukaryotic cell organisation with emphasis on the nucleus and chromatin. Provides the structural baseline for understanding chromosome behaviour.

Lesson 1 • ISCN Nomenclature Fundamentals

Introduces the International System for Human Cytogenomic Nomenclature for describing normal and abnormal karyotypes. Accurate notation is essential for clinical reporting.

Lesson 2 • Banding Patterns and Chromosome Identity

Explains G-, Q-, R-, and C-banding patterns and their molecular basis. Banding is the primary tool for individual chromosome identification.

Lesson 3 • Human Karyotype Organisation

Introduces the 46-chromosome human complement and Denver classification groups. Learners learn to arrange autosomes and sex chromosomes into a standard karyotype.

Lesson 4 • Heterochromatin and Euchromatin

Distinguishes constitutive from facultative heterochromatin and their cytogenetic significance. Connects chromatin state to gene expression and banding outcomes.

Lesson 1 • Specimen Types and Collection

Covers peripheral blood, bone marrow, amniotic fluid, and tissue biopsy as cytogenetic sources. Proper collection directly determines culture success and result quality.

Lesson 2 • Cell Culture and Mitogen Stimulation

Explains short-term and long-term culture conditions and mitogen selection. Adequate mitotic index is prerequisite for successful chromosome harvest.

Lesson 3 • Banding Techniques in Practice

Provides step-by-step protocols for G-, Q-, R-, and C-banding in the laboratory. Troubleshooting banding failures is emphasised throughout.

Lesson 4 • Microscopy and Image Capture

Trains learners in brightfield and fluorescence microscopy for chromosome analysis. Image quality directly impacts the accuracy of karyotype interpretation.

Lesson 1 • Clinical Report Writing

Teaches structured cytogenetic report composition including ISCN formula, interpretation, and clinical correlation. Clear reporting is essential for downstream clinical decisions.

Lesson 2 • Chromosome Pairing and Karyotyping

Guides manual and software-assisted chromosome pairing into a standard karyogram. Accurate pairing is the foundation of all subsequent abnormality detection.

Lesson 3 • Identifying Numerical Abnormalities

Covers aneuploidy, polyploidy, and mosaicism detection from karyotype images. Learners apply ISCN notation to describe each numerical variant accurately.

Lesson 4 • Identifying Structural Abnormalities

Trains recognition of deletions, duplications, inversions, translocations, and isochromosomes. Each abnormality type is linked to its ISCN descriptor.

Lesson 1 • Principles of Hybridisation

Explains DNA denaturation, probe annealing, and stringency conditions. Understanding hybridisation kinetics is essential for optimising FISH signal quality.

Lesson 2 • Clinical Applications of FISH

Applies FISH to haematologic malignancies, prenatal diagnosis, and solid tumour analysis. Case-based examples reinforce probe selection and result interpretation.

Lesson 3 • Probe Types and Labelling

Describes centromeric, locus-specific, whole-chromosome paint, and telomeric probes. Probe selection determines the clinical question a FISH assay can answer.

Lesson 4 • FISH Protocol and Slide Processing

Provides step-by-step FISH protocol from slide pretreatment through counterstaining. Consistent technique minimises background and maximises signal clarity.

Lesson 1 • Chromosomal Instability Syndromes

Covers Fanconi anaemia, Bloom syndrome, and ataxia-telangiectasia as models of DNA repair failure. Cytogenetic findings reflect underlying repair pathway defects.

Lesson 2 • Structural Rearrangements and Phenotype

Links balanced and unbalanced translocations, inversions, and deletions to clinical outcomes. Carrier status and reproductive risk are central themes.

Lesson 3 • Sex Chromosome Abnormalities

Examines Turner, Klinefelter, and other sex chromosome aneuploidies and their cytogenetic presentations. Phenotypic variability is linked to X-inactivation and mosaicism.

Lesson 4 • Microdeletion and Microduplication Syndromes

Describes submicroscopic deletion and duplication syndromes detectable by FISH and microarray. Learners recognise when standard karyotyping is insufficient.

Lesson 1 • Solid Tumour Cytogenetics

Addresses cytogenetic findings in sarcomas, renal tumours, and other solid malignancies. Diagnostic translocations in sarcomas are emphasised as classification tools.

Lesson 2 • Monitoring Treatment Response

Explains cytogenetic remission criteria and relapse detection in treated malignancies. Serial karyotyping and FISH are used to track residual disease.

Lesson 3 • Myelodysplastic Syndrome Cytogenetics

Examines chromosomal changes in MDS and their role in the prognostic scoring system. Cytogenetic risk category directly guides treatment decisions.

Lesson 4 • Principles of Tumour Cytogenetics

Introduces clonal evolution, tumour heterogeneity, and the significance of recurrent abnormalities. Establishes the conceptual framework for interpreting cancer karyotypes.

Lesson 1 • Optical Genome Mapping

Explains long-range physical mapping of structural variants using fluorescently labelled DNA molecules. Optical mapping detects balanced rearrangements missed by microarray.

Lesson 2 • Next-Generation Sequencing in Cytogenomics

Introduces low-pass whole-genome sequencing and targeted panels for structural variant detection. Learners compare NGS sensitivity and resolution to traditional methods.

Lesson 3 • Integrating Technologies for Diagnosis

Guides selection of the optimal technology combination for constitutional and cancer cytogenomics. A tiered testing strategy maximises diagnostic yield while controlling cost.

Lesson 4 • Chromosomal Microarray Analysis

Covers SNP and oligonucleotide array platforms for genome-wide copy number and loss-of-heterozygosity detection. Microarray has replaced karyotyping as the first-tier test in many settings.