TableĀ 3

Information sources for microcephaly caused by chromosome perturbations

Information sourceComments
Cytogenetic and clinical genetics opinionIt is usual for a cytogenetic report to give some advice on the relevance of findings, and to give a relevant reference(s).
Referral of the family of a proband to Clinical Genetics is usually recommended.
ExperienceHaving seen cases with the diagnosis before.
Books
(both with good searchable indexes)
For example, Smith's recognisable patterns of human malformation, 6th edition. Edited by Jones LJ. ISBN 0-7216-0615-6.
Databases
(best regarded as expert systems)
For example, DECIPHER, http://decipher.sanger.ac.uk.
The data is also freely accessible through the genome browsers: Ensembl, http://www.ensembl.org/Homo_sapiens/Info/Index; and The Human Genome Browser, http://genome.ucsc.edu/cgi-bin/hgGateway Association of Clinical Cytogeneticists website has useful links, http://www.cytogenetics.org.uk/directory/cytogenetics_databases.htm
Medical journal articles
(best used after a diagnosis is achieved)
Via PubMed, http://www.ncbi.nlm.nih.gov/pubmed.
For a specific diagnosis check if there is an article in GeneReviews (freely available), http://www.ncbi.nlm.nih.gov/books/NBK1116/
Parent support groupsUnique: understanding chromosome disorders, http://www.rarechromo.org/html/home.asp Contact a family, http://www.cafamily.org.uk/