was compiled by searching:
1. The OMIM and
PubMed databases using “microdeletion syndrome”, “monosomy
syndrome” and “microduplication syndrome”.
2. Data from current published microarray series.
3. The tests currently offered by the Key Locus Service of the National Genetics
Reference Laboratory (Wessex).
(URLs: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM and http://www.ncbi.nlm.nih.gov/entrez/query.fcgi ).
were selected on the basis that:
1. The size of
the imbalance is larger than a single gene.
2. There is evidence that dosage imbalance does have phenotypic consequences.
3. Critical regions (or genes) were added where known and the genome base pair
extent given for the critical region rather than the whole deletion/duplication
interval. Please note that the May 2004 (hg17) assembly was used for this exercise.
reference is given where the literature is particularly important
for the definition of a given critical region or syndrome.
The list has
been designed to be as comprehensive as possible but:
1. Will inevitably have missed some relevant areas.
2. Cannot be guaranteed to be entirely free of misinterpretation.
Users are therefore
missing or new information.
2. Question the validity of individual entries.
unpublished information can be gathered from the ECARUCA and DECIPHER
databases (URLs: http://www.ECARUCA.net and http://www.sanger.ac.uk/PostGenomics/decipher/).
has been compiled with the aim of:
1. Defining the
content of custom designed arrays.
2. Interpreting the results of array analysis.
can be contacted at:
National Genetics Reference Laboratory (Wessex)
Salisbury NHS Foundation Trust
Salisbury District Hospital
tel: +44 (0)
fax: +44 (0) 1722 338095
web site: http://www.ngrl.org.uk/Wessex/