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.
Sunday, April 12, 2009
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