Understanding Rare Chromosome and Gene Disorders

Registered Chromosome Disorders, Copy Number Variants & Gene Variants

Unique has the following rare chromosome disorders, copy number variants and single gene variants in its membership. When searching for a single gene variant, you will need to select the chromosome number and arm on which the gene is located and select "single gene defect" under the disorder drop down list.

Families - if you cannot see a specific disorder listed similar to the one in your family, please do not let this stop you from registering with us if you are not already members of Unique. Many new families are joining Unique daily. If we do not have your details registered on our confidential members' database and your clear consent to release your contact details to other registered families, then we cannot put these families in touch with you.

(Database last updated 21st April 2024)

To search the database, pick from each drop list and press the button marked "Search"

How many records per page?


The following list shows the chromosome conditions registered with Unique which match your search criteria. You may click on one to see specific karyotypes, FISH or arrayCGH analysis or DNA sequencing results registered against that condition.

Chromosomes Number of Members