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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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Diary of a Cycle Ride - 21st August - Richard has done it!
Richard has cycled 874 miles from John O'Groats to Lands End to raise funds for us.Many congratulations and grateful thanks from all of us at Unique! Click here to read his diary and show your support
Unique on Twitter!
Our Twitter name is @unique_charity so please follow us for updates on what we're doing to support anyone with a rare chromosome disorder. Click here for more.....
Christmas Cards 2010
Our new range of Christmas Cards is now ready to buy. Click here to see them and the order form. Thanks for supporting us!
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
Expectations 2-for-1 Special Offer
Expectations, a play written by a Unique member parent, is coming to the Edinburgh Festival fringe in August. Click here for details of a special offer for Unique members and supporters
Beverly on YouTube
Click here to watch a short video Beverly, Unique's CEO, made at the Eurodis Conference in May 2010
Join 4,000 Unique Facebookers
Unique's Facebook community now has 4,000 members. Join us for mutual support and information and to chat with other families. Click here for more info
New information guides released
Click here to read our newly released guides on microduplications of 1q21.1, on array CGH analysis and, in Spanish, our guide to Deletion 1p36 Syndrome
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
1p36 Study Day Report
Click here to read the full report of the 1p36 study day
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 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
¿Habla español con fluidez?
Please click here if you you are a native Spanish speaker and would like to help Unique!
Midsummer Meet Up Week
Get together with your friends and raise money for Unique! Anyone can get involved so please click here for more details & to download an invite to give to your friends.
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
Midwinter Meet Up
If it's Winter in June where you live, hold a Midwinter Meet Up for Unique! Click here for info and a downloadable invite to send to your friends and contacts
New Videos on our YouTube Channel
Please click here to watch the videos on Unique's own YouTube channel.
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!
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
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
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
Ways to help Unique
Online donations
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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 Spring 2010
Click here to download the latest Unique magazine. (You will require your Members Area login details)
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Website last updated 02 September 2010 Copyright © 1996-2010 Unique You are visitor number 1225339
This page last updated 02 September 2010 The Rare Chromosome Disorder Support Group There have been 716209 visits to this page
Website editor Beverly Searle BSc(Hons) PhD CBiol MSB