In addition to the traditional cytogenetics still used as the basic methodology for everyday clinical diagnosis, new molecular cytogenetic techniques provide a useful basis for routine diagnosis. Flourescence in situ hybridization (FISH) has become a standard technique, and comparative genomic hybridization (CGH), spectral karyotyping (SKY), and multi-color FISH have shown their potential for diagnostic purposes. Following a section on tissue culture, chromosome staining and basic information about karyotyping, nomenclature and quality standards, protocols of relevance for comprehensive cytogenetic diagnostics are presented.

I Classical Cytogenetics

1 Tissue Culture
2 Chromosome Staining
3 Karyotyping and Data Interpretation
4 Documentation
II Postnatal Diagnosis
5 Peripheral Blood
6 Establishment of Permanent Growing Lymphoblastoid Cell Lines
7 Solid Tissues
8 Cells from Urine Sample
9 Classical and Molecular Cytogenetics of Tumor Cells
10 Cytogenetics of Meiotic Cells
III Prenatal Diagnosis
11 Prenatal Diagnosis - An Introduction
12 Amniotic Fluid Cell Analysis
13 Chorionic Villi Sampling
IV Special Applications
14 Diagnosis of Chromosomal Instability Syndromes
15 Flow Cytometric Testing for Syndromes with Chromosomal Instability, Aplastic Anemia and Related Hematological Disorders
16 Cell Fusion
17 Origin of Trisomies
V Molecular Cytogenetics
18 Fluorescence in Situ Hybridization
19 Fluorescence in Situ Hybridization (FISH) Analysis in Human Sperm Cells
20 Microdissection and Reverse Chromosome Painting
21 Comparative genomic hybridisation (CGH)
VI Techniques in Development
22 Fetal Cells in Maternal Blood
23 Spectral Karyotyping in Clinical and Tumor Cytogenetics
24 Chromosome Analysis by Multiplex-FISH (M-FISH).