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Welcome to Unique

Click here to download our free information leaflets on many chromosome disorders

The info@rarechromo.org helpline will not be available until the 20th October. In the meantime, please email Satnam on satnam@rarechromo.org with your enquiries.

Unique is a source of information and support to families and individuals affected by any rare chromosome disorder and to the professionals who work with them. Unique is a UK-based charity but welcomes members worldwide. Membership of Unique is free but the group receives no government funding and is heavily reliant on donations and fundraising to continue its work. Please help us in whatever way you can.

You may have been given a diagnosis or indication of a chromosome disorder by a geneticist or other medical professional and they may have used a medical term which is unfamiliar to you. So to help you decide if Unique is the appropriate organisation for you, we thought it would be useful to describe the different categories of rare chromosome disorder. Rare chromosome disorders can be grouped as structural disorders, numerical disorders and other miscellaneous disorders.

Structural disorders include:
  • deletions and microdeletions
  • duplications and microduplications
  • ring chromosomes
  • pericentric and paracentric inversions
  • balanced reciprocal translocations
  • unbalanced translocations
  • Robertsonian translocations
  • balanced insertions
  • X;autosomal or Y;autosomal translocations
and any mosaic forms of these disorders
Numerical disorders include:
  • monosomy, trisomy
  • tetrasomy, pentasomy
  • triploidy, diploid triploid mosaicism
  • marker chromosomes
  • extra structurally abnormal chromosomes (ESACs)
  • small supernumerary markers chromosomes (sSMCs)
  • isodicentric chromosomes
  • 47,XXX and 47,XYY
and the rarer sex chromosome aneuploidies, such as:
  • 48,XXXX, 49,XXXXX, 48,XXYY, 48,XYYY and 49,XXXXY
and any mosaic forms of these disorders
Miscellaneous disorders include
  • uniparental disomies (UPD)
  • X-inactivation etc.

We do also cover whole copy number changes to single genes but do not cover point mutations within a single gene (i.e. changes to the DNA base coding within a single gene)

Please find out more about Unique and rare chromosome disorders and how to join us by browsing our website using the menu on the left and by downloading and reading our publication The Little Yellow Book. The menu on the right shows how you can help us and lets you read some of our families' stories.

The information provided on the Unique web site is designed to support, not replace, the relationship that exists between a patient/site visitor and his/her physician

Click here to help us by taking our free online survey
Unique Christmas Cards for Sale
Please click here to see our 2008 range of Christmas cards & the order form
Unique Conference 2008
Click here for details of the next conference and booking form. Please print off, complete and return to Marion Mitchell.
We're nearly at 500 Facebook Members!
Unique’s Facebook group now has nearly 500 members! Why not join us, show your support and connect with others in the same boat? Just click here now!
Did You Know...?
Click here to read some facts about Unique you probably don't know!
Little Yellow Book
Click here to read our Little Yellow Book in English, Spanish, Italian, Finnish and Norwegian
Fundraising events
Click here to check on new events
Email News Alerts
Email news@rarechromo.org to register for our bi – monthly email news alerts. Keep up to date with latest news and information.
Why support Unique? A Plea From The Heart
Please Click Here to read why children affected by rare chromosome disorders deserve your support and donations
XYY Study Day Report
Click here for the XYY Study Day Report
Children with 4q- Syndrome: The Parents' Perspective
Please click here to read this newly published paper by Dr E-M Strehle and Prisca Middlemiss
New study of XXX & XYY children
A new study into the development of children with an extra X or Y chromosome has been launched. To find out more about participating please click here
Unique families in Daily Mail
Two of our families were featured in the Daily Mail. Click here to read the full story
Ways to help Unique
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Read these Unique Family Stories
Ed
Jenny
Lily
Nell
Robert
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Unique Newsletter Summer 2008
Click here to download the latest Unique newsletter. (You will require your Members Area login details)
Unique Conference Report 2005
Click here for the Unique conference 2005 report
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Website last updated 13 October 2008 Copyright © 1996-2008 Unique You are visitor number 653987
This page last updated 04 October 2008 The Rare Chromosome Disorder Support Group There have been 394945 visits to this page
Website editor Beverly Searle BSc(Hons) PhD CBiol MIBiol