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Welcome to Unique

Click here to download our free information leaflets on many chromosome disorders
Click on the image above 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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Fundraising for Unique?
Raising much-needed funds for Unique? Thinking about it and want some help or ideas? Please contact Craig at craig@rarechromo.org
The experiences of siblings of children who have life-limiting conditions
Please click here for an invitation to join research into the experiences of siblings of children who have life-limiting conditions.
Great Run Places
We have guaranteed places this year in the Great North Run, Great Birmingham & Great Edinburgh Runs. Why not run for Unique? Email craig@rarechromo.org for details
Distal 22q11.2 Deletion Guide & Updated T8M Guide
Please click here to see our new information guide on Distal 22q11.2 Deletions and our updated T8M guide
New Research Study: Deletions & Duplications
Volunteers needed for research study into genetic deletions and duplications being undertaken by Cardiff University. Click here for more.
Spring 2013 magazine now available
Spring 2013 magazine now available to download from the private member families' area
Donate to Unique from the USA
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!
Unique Wristbands
NEW: Unique wristbands now available. Just £2 each + p&p. UK/ Overseas. Click here for details & to order. Great way to show yr support!
Non-Invasive Prenatal Testing (NIPT) Research Study
If you are pregnant with a baby with a chromosome disorder and might like to help develop a non-invasive prenatal test for microdeletions and microduplications, please click here for more details
Predictive Genetic Testing of Children
UK families please click here to find out more about participating in a research study into predictive genetic testing of children
New Christmas Cards for 2012
4 brand new designs this year plus one previous design at less than half price! Click here to order or email marion@rarechromo.org for a paper order form
Help Plan our Future
Please click here to take a short survey about Unique's work and the services we provide
DDD Deciphering Developmental Disorders Project Family Newsletter
Please click here to read the first DDD project family newsletter September 2012
Truly Unique Bracelets
Check out the beautiful Unique bracelets at Loumae designs. They make an ideal Christmas present & 20% of the purchase price is donated to us. Click here.
New Phelan-McDermid Syndrome Study
Click here for details of a new Cerebra Centre study of Challenging Behaviour in children with Phelan-McDermid Syndrome
Non-Invasive Prenatal Diagnosis (NIPD) Research Study
Couples with a child diagnosed with a microdeletion or microduplication are invited by Natera Inc. to join this study to help advance non-invasive prenatal diagnosis - click here for more information
A Unique Way to Say 'Thanks'
A Unique family thought up a novel way to thank staff at their daughter's school who've been so supportive. Click here to read more.
Rare Disease Plan Consultation: Unique's Response
Click here to read our response to the Rare Disease UK consultation on a national plan for rare diseases.
Survey: Ethics and Genes
Click here for details of a Wellcome Trust Sanger Institute survey about public attitudes to sharing genomic results. Would you want to know about your genetic risk for hundreds of conditions?
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!
Plane Great!
Click here for details of an event being organised by another charity in support of Unique
Spring Raffle 2012 - Our Best Yet!
Thank you to everyone who participated in our Spring 2012 Raffle. Please click here for a list of the winners.
Beverly on YouTube
Click here to watch a short video Beverly, Unique's CEO, made at the Eurordis Conference in May 2010
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.
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
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
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
Study Weekend Reports
Click here to see the reports on our recent study weekends - scroll to the "Other" section
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
¿Habla español 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 Spring 2013
Click here to download the latest Unique magazine. (You will require your Members Area login details)
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Website last updated 21 May 2013 Copyright © 1996-2013 Unique You are visitor number 2387012
This page last updated 30 April 2013 The Rare Chromosome Disorder Support Group There have been 1373021 visits to this page
Website editor Beverly Searle BSc(Hons) PhD CBiol MSB