Spacer
Glaxo Impact Award 2009
Glaxo Impact Award 2009
This website is accredited by Health On the Net Foundation. Click to verify. We comply with the HONcode standard for trustworthy health information: verify here.
Spacer
Charities Online Accounts Awards 2006We were awarded the Charities Online Accounts Award 2006. Click here for more information.
Spacer
Unique home page
Donate to Unique online now
Search the Unique website
Squarelogo image Dominic image Georgina image Robert image Jenny image Amy image
Spacer
Spacer
Spacer

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

Email Newsletter icon, E-mail Newsletter icon, Email List icon, E-mail List icon Sign up for our
bi-monthly
Email News Alerts

Enter your email address and press Go
Family Conference Weekend
Click here for info on our Family Conference in April. Please read the Factsheet first before completing booking forms. Nb. You must book by February 10th!
Vacancy: Database Co-Ordinator (p/t)
We seek a part-time Database Co-Ordinator to maintain our specialist database of chromosome disorders. An understanding of genetic, medical & scientific terminology is essential. Click here for more.
Research Into Genetic Deletions & Duplications
Volunteers needed for Cardiff University research into Learning Disability, behavioural and other problems in children with genetic deletions & duplications. Click here for info.
Autumn newsletter 2011 now available
Autumn newsletter now available for download from the private member families' area
Members' Database Update - URGENT
All registered members please contact Beverly at beverly@rarechromo.org to say how you want to receive your database forms to update - by encrypted email attachment or by regular mail. Huge thanks to those who have already responded. We'll start sending out individual forms from mid-September onwards. There are 11,000+ forms to send out, so please be patient with us! THANK YOU!
Special Offer: Panto Tickets 50% Off!
Click here for details of a special offer for Unique members and supporters. Tickets to a production of Cinderella in Ascot, Berkshire for just £5!
Donate to Unique from the USA
NEW for 2011: American taxpayers can now make tax deductable donations to Unique via the American Fund, a 501(c)(3) registered non-profit organization. Click here to find out how!
Beverly on YouTube
Click here to watch a short video Beverly, Unique's CEO, made at the Eurordis Conference in May 2010
Connect with us on Facebook
Unique's Facebook community now has well over 6,000 members. Join us for mutual support and information and to chat with other families. Click here for more info
NEW Unique Chromosome Network Cafe
The Cafe is a closed Facebook group where registered Unique members can chat to each other. Affected by a rare chromosome disorder but not yet a Unique member? Go to the Join Us section on this website to find out how to register.
16p11.2 Deletions and Duplications
The new Simons VIP Connect website for families affected by 16p11.2 Deletions and Duplications is now open. 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!
After Diagnosis - new guide
Click here to read our new guide "After Diagnosis. The Early Years. What Happens Next?". Just scroll down to the "Other" section
New Guides available on 22q11.2 Duplications and onTriple X Syndrome in Spanish
Please click here to see our new information guides on 22q11.2 duplications and on Triple X Syndrome in Spanish
Study Weekend Reports
Click here to see the reports on our recent study weekends - scroll to the "Other" section
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 craig@rarechromo.org
Tweet Tweet!
Unique is on Twitter. Please follow @unique_charity for news & updates. Click here for more.....
Wizid Wristbands, Lanyards, Sweatbands & More
Wizid is an Australian company who are wonderfully supportive of Unique and donate $1 to us for every invoice generated. Please support them and buy Wristbands, Lanyards, Sweatbands & More from them online.
Czy mówisz po polskich płynnie?
Is Polish your native language and do you have genetics knowledge? We need your help please! Click here for more information
Spanish Translations Update
Click here for an update on translations into Spanish of our information guides
1p36 Study Day Report
Click here to read the full report of the 1p36 study day
Rare Disease UK Report
“Experiences of Rare Diseases: An insight from patients and families” . Please click here to read it.
Unique Video
As a 2009 GSK Impact Award winner, a short video was made about Unique and our work. Click here to watch it.
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
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
Elijah
Click here to read about one inspiring Unique family's very special child.
New Video on our YouTube Channel
Please click here to watch a great new video about rare chromosome disorders on Unique's own YouTube channel.
Report on Boys with XYY
Report now out from the Oxford Extra Sex Chromosome study on boys with XYY. Click here for details
æHabla espańol con fluidez?
Please click here if you you are a native Spanish speaker and would like to help Unique!
Fundraising events
Click here to check on new events
Report: Girls with XXX (Triple X)
Report now out from the Oxford Extra Sex Chromosome study on girls with XXX (Triple X). Click here
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!
Conference 2008
Click here for the report of our conference at the beginning of November 2008
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 Autumn2011
Click here to download the latest Unique magazine. (You will require your Members Area login details)
Spacer
w w w . r a r e c h r o m o . o r g
Website last updated 27 January 2012 Copyright © 1996-2012 Unique You are visitor number 1765042
This page last updated 24 January 2012 The Rare Chromosome Disorder Support Group There have been 1003185 visits to this page
Website editor Beverly Searle BSc(Hons) PhD CBiol MSB