Cytogenetic Analysis of Cardiovascular Disease: Karyotyping

Numerical and structural chromosomal rearrangements, such as aneuploidies, deletions, duplications, and other aberrations have been associated with congenital abnormalities, pregnancy loss, and malignancy. Detection of these genetic changes is possible by cytogenetic analysis. The karyotype is determined by analysis of metaphase or prometaphase chromosomes of peripheral blood lymphocytes after banding procedures. This analysis plays an important role in determining patient diagnosis and care. In this chapter, we describe the basic approach of cytogenetic analysis: arresting the cell in metaphase or prometaphase, the obtaining of metaphase chromosome spreads, and staining and chromosome analysis.