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References

This collection 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 ).

Individual loci 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.

The individual 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 invited to:

1. Contribute missing or new information.
2. Question the validity of individual entries.

Further valuable unpublished information can be gathered from the ECARUCA and DECIPHER databases (URLs: http://www.ECARUCA.net and http://www.sanger.ac.uk/PostGenomics/decipher/).

The collection has been compiled with the aim of:

1. Defining the content of custom designed arrays.
2. Interpreting the results of array analysis.

The compiler can be contacted at:
National Genetics Reference Laboratory (Wessex)
Salisbury NHS Foundation Trust
Salisbury District Hospital
Salisbury
SP2 8BJ

tel: +44 (0) 1722 429080
fax: +44 (0) 1722 338095
e-mail: john.barber@salisbury.nhs.uk
web site: http://www.ngrl.org.uk/Wessex/