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Welcome to Unique

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

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

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Unique Video
As a 2009 GSK Impact Award winner, a short video was made about Unique and our work. Click here to watch it.
New information guides released
Click here to read the new information guide on 10q25/6 deletions, new info on 16p11.2 microdeletions in the 16p proximal deletions information guide and the Tetrasomy X guide now in Dutch
Subtelomere Rearrangement Research
Does your child have a subtelomere rearrangement? Please click here to read how you can join Dr. Katie Rudd's research study
UK SEN Provision
Parents: Click here to give the UK gov't your views on Special Educational Needs assessment and statementing to help improve the system.
You Could Win £25,000!
Please show your support for Unique by playing our new lottery for as little as £1 and you could win £25,000! Click here for more information
Follow us on Twitter!
We are now on Twitter! Follow us for updates on what we're doing to support anyone with a rare chromosome disorder. Click here for more.....
Please Support our Runners!
Skydivers, parachutists, marathon runners all need your support to raise funds for Unique! Just click here to find out more!
A Unique Child!
Please take a moment to read this article showing how one inspiring family is helping us out! If you can help us in any way to raise funds, please email julie@rarechromo.org
Join nearly 1500 Unique Facebook Members!
Unique’s Facebook group now has almost 1500 members! Why not join us, show your support and connect with others in the same boat? Just click here now!
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
Expectations – a new play about rare chromosome disorders
After rave reviews in Sweden, this new play about rare chromosome disorders is coming to the UK in October. Click here for more details and watch this space for further details in future.
Fundraising events
Click here to check on new events
Little Yellow Book
Click here to read our Little Yellow Book in English, Spanish, Italian, Finnish and Norwegian
Unique Tales for kids
Click here to read our children's cartoon-style book about chromosomes & chromosome disorders. It's a large file so please be patient!
XYY Study Day Report
Click here for the XYY Study Day Report
Conference 2008
Click here for the report of our conference at the beginning of November 2008
Volunteers needed for research
Click here if you would like to help develop a new questionnaire to measure outcomes from clinical genetics services
New sleep research
Does your child have sleep problems and a moderate to severe learning disability? Click her for details of the MENDS study.
Ways to help Unique
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Read these Unique Family Stories
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Unique Newsletter Spring 2009
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 04 July 2009 Copyright © 1996-2009 Unique You are visitor number 865174
This page last updated 03 July 2009 The Rare Chromosome Disorder Support Group There have been 517166 visits to this page
Website editor Beverly Searle BSc(Hons) PhD CBiol MIBiol