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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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1p36 Study Day Report
Click here to read the full report of the 1p36 study day
New information guides released
Click here to read the newly released guides on Deletions of 12q, Duplications of 6q and Duplications of Xq28.
NEW Unique Forums
Click here to check out our brand NEW Secure forums at Big Tent. Contact other Unique parent-carers, swap stories, tips, upload pics or just hang out. www.bigtent.com/groups/unique
NEW Report: Girls with XXX (Triple X)
Report now out from the Oxford Extra Sex Chromosome study on girls with XXX (Triple X). Click here
Pallister-Killian Syndrome Family Weekend 2010
Click here for details of a Unique family weekend for families with a member affected by Pallister-Killian syndrome
2q37 Deletions Family Weekend 2010
Click for details of a weekend for families with a member affected by a 2q37deletion.
4q deletions Family Weekend 2010
Click here for details of a Unique family weekend for those affected by a 4q deletion.
8p23.1 deletions Family Weekend 2010
Click here for details of a Unique Family Weekend for those affected by an 8p23.1 deletion
How Are We Doing?
Please take a moment to take our members questionnaire, your chance to tell us how we are doing and help us to plan future services. Click here.
New Jeans for Genes film
Click here to view the new film showing the work of Jeans for Genes. Unique is a guest charity of Jeans for Genes this year, so please show your support.
NEW Report on Boys with XYY
Report now out from the Oxford Extra Sex Chromosome study on boys with XYY. Click here for details
Read this Daily Express article
Click here to read about a little girl with Ring 18, appearing in the 22nd December edition of the Daily Express
WellChild need your help
Click here to read how you can help WellChild with their Better at Home campaign and new parents' charter
¿Habla español con fluidez?
Please click here if you you are a native Spanish speaker and would like to help Unique!
9q34 deletions Family Weekend 2010
Click here for details of a Unique family weekend for those affected by a 9q34 deletion
Unique Video
As a 2009 GSK Impact Award winner, a short video was made about Unique and our work. Click here to watch it.
Jeans for Genes 2009
Unique is a guest charity for the 2009 Jeans for Genes appeal. Click here for more information about this year's appeal.
Chromosome 15q Duplications Study
Click here for details of a study into seizures in chromosome 15q duplications and how you can participate.
Recognise the need for AA and DLA
A petition has been started asking the government to recognise the importance of Attendance Allowance and Disability Allowance to disabled people. If you'd like to sign it, please click here
New Videos on our YouTube Channel
Please click here to watch the videos on Unique's own YouTube channel.
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
New Smith-Magenis Research Report
Click here to read a new report by Paul Langthorne & Peter McGill at the Tizard centre
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
Please Support our Runners!
Skydivers, parachutists, marathon runners all need your support to raise funds for Unique! Just click here to find out more!
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.....
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 more than 2000 Unique Facebook Members!
Unique’s Facebook group now has more than 2000 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
Click here to read about one inspiring Unique family's very special child.
Fundraising events
Click here to check on new events
Little Yellow Book - new version released
Click here to read our Little Yellow Book in English, Spanish, Italian, Finnish and Norwegian. Updated English version just released!
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
Online donations
Regular donations
Gift Aid
Membership
Unique Merchandise
Friends of Unique
Sponsored Events
Unique Feast
Read these Unique Family Stories
Ed
Jenny
Lily
Nell
Robert
More...
Unique Magazine Autumn 2009
Click here to download the latest Unique magazine. (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 11 March 2010 Copyright © 1996-2010 Unique You are visitor number 1070055
This page last updated 25 February 2010 The Rare Chromosome Disorder Support Group There have been 635218 visits to this page
Website editor Beverly Searle BSc(Hons) PhD CBiol MSB