Human Cytogenetics Database 2.0 : Windows CD-Rom Single User Version
The Human Cytogenetics Database was developed as a tool for the clinical diagnosis of autosomal chromosome aberrations. The database arose from the need to obtain information quickly on the many rare cytogenetic aberrations. Clinical findings on phenotype, development, and fate of the affected patients are particularly important. It is the rarest aberrations that pose the greatest problems to providing genetic counselling to the parents of affected patients on growth, mental retardation, and the likelihood of complications. The author is a busy medical geneticist and the system is very much based on clinical practice and experience. The database contains information on over 1000 autosomal chromosome aberrations. Aberrations of the X and Y chromosome are excluded unless they are combined with authosomal aberrations. The four most frequent aberrations, trisomie 21, 18, 13, and the cri-du-chat syndrome (deletion of distal 5p), are also excluded unless they are combined with other aberrations which are in the database.
- 01 Oct 2001
- Oxford University Press
- Oxford, United Kingdom