Sunday, April 12, 2009

Genetic diagnosis, a multistep procedure

The phenotype, which is the clinical manifestations
including individual and family history in
medical terms, is the starting point. The first
decision the medical geneticist must make is
whether a pattern of manifestations can be recognized.
Tools that can assist in this decision include
training and personal experience; appropriate
textbooks and other literature; and online
search systems such as OMIM, MEDLINE,
PubMed, POSSUM, London Dysmorphology
Data Base for congenital malformations, and cytogenetic
databases.

No comments:

Post a Comment