Now That Small Molecular-Level Deletions and Subtle Chromosomal Rearrangements Can

Essay

Now that small molecular-level deletions and subtle chromosomal rearrangements can be discovered using advanced cytogenetic techniques and microarrays, disorders whose causes had
not previously been known can have their basis identified. However, since most of these are not widely publicized, being individually rare, it has been difficult to identify patients with shared chromosomal abnormalities who share phenotypic features. A new database, known as DECIPHER, is now available to search for patients with like phenotypes and/or like chromosomal abnormalities. If you are the clinical geneticist who has a patient whose data is entered into this database, suggest three or more ways using this database can benefit your patient or your field in general.