Diagnostic Cytogenetics

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.

Reliable standard procedures as well as the latest techniques for cytogenetic diagnostics Includes easy to follow protocols with detailed technical hints for clinical applications and research With excellent illustrations, some in full color Each technique is described by an expert actively working in the field Includes supplementary material: sn.pub/extras

Inhalt
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).