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
- Mosaicism and Chimerism
- Overview of Chromosomal Disease
Advanced and supplemental topics related to cytogenetic and chromosomeal disease are:
Last updated on December 08, 1996
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