Searching for chromosomal diseases in Genatlas

Each entry is designated by a symbol, in capital letters and without punctuation, as follows: a short item identifying the type of rearrangement (such as DEL=deletion, DUP=partial trisomy, TRI=full trisomy, and others), the chromosome number, the arm symbol, and an indication of the location (such as D=distal, P=proximal, or band number).

For instance the 9q34 subtelomeric deletion is designated DEL9Q34.

From the Phenotype database (pink color), there are different ways to search for a chromosomal disease when you do not know its symbol. Two examples are given here:

· Go to optional (below full text query)

• Using the drop-down menus, select chromosomal in Genetic determination search box, and select a number in Chr search box. For numbers 1 and 2, addition of p or q in Arm search box will avoid to select also chr 11,12, etc….
• Click Find open a new window with the search results, showing the entries existing in Genatlas for this chromosome
• clicking on a symbol will open the corresponding Genatlas phenotype page

Alternatively, if you search for a specific type of imbalance, you may use the Symbol search box:

· type the imbalance symbol (DEL, DUP or other) and the chromosome number (don’t forget to add p or q for chr 1 and 2)

· in the search results list , click the relevant symbol to open the corresponding Genatlas phenotype page

The Full text search box may also be used to search a chromosomal disease by its name, such as Williams or DiGeorge

From the Genatlas phenotype page, clicking References in the upper line (dark blue) will give you access to a list of relevant references, and a click on a title will open the corresponding abstract in PubMed.

If a corresponding gene is mentioned in the Genatlas phenotype page, a click on the gene symbol will open the corresponding Genatlas gene page.