Genetics Index Glossary Cytogenetics and Chromosomal Disorders
Cytogenetics is the study of normal and abnormal chromosomes.
This includes examination of chromosome structure, learning and
describing the relationships between chromosome structure and
phenotype, and seeking out the causes of chromosomal
abnormalities. In the simplest case, chromosomes are examined
and characterized by obtaining an individual's karyotype, which
is a description of the number and structure of the chromosomes.
All species are affected by chromosomal disease. Its
manifestations are diverse and numerous, including early
embryonic death, minor to major congenital defects, development
of cancer, and infertility or sterility. A broad base of
knowledge is necessary in order to understand, diagnose and
advise about this important class of diseases. Core information
about cytogenetics and chromosomal disorders is presented in the
following topics: - Chromosome Structure and Terminology -
Preparing a Karyotype - Aneuploidy and Deletions -