Understanding Rare
Chromosome and Gene Disorders

Registered Chromosome & Gene Disorders

Unique has the following rare chromosome disorders and autosomal dominant (but not autosomal recessive) single gene disorders in its membership.

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 25th June 2019)

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

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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