Spacer
Charities Online Accounts Awards 2006
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

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

Fundraising events
Click here to check on new events
200 Facebook Members!
Unique’s Facebook group now has 200 members! Why not join us, show your support and connect with others in the same boat? Just click here now!
New! Email News Alerts
Email news@rarechromo.org to register for our brand new bi – monthly email news alerts. Keep up to date with latest news and information.
On your bike!
A Unique dad is doing a 47 mile cycle ride to raise funds for us. Click here for details and to show your support for him.
Unique Conference 2008
Click here for details of the next conference and booking forms. Please print off, complete and return to Marion Mitchell. You'll need a creche form for each child - click below
Creche Booking Form
Click here if you need to print more than one creche form
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
XYY Study Day Report
Click here for the XYY Study Day Report
New study of XXX & XYY children
A new study into the development of children with an extra X or Y chromosome has been launched. To find out more about participating please click here
Little Yellow Book in Spanish
The Little Yellow Book is now available in Spanish thanks to Genetic Counsellor Ana Morales in Florida. Click here to download the pdf
Unique families in Daily Mail
Two of our families were featured in the Daily Mail. Click here to read the full story
Children with 4q- Syndrome: The Parents' Perspective
Please click here to read this newly published paper by Dr E-M Strehle and Prisca Middlemiss
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 Newsletter Summer 2008
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
Spacer
w w w . r a r e c h r o m o . o r g
Website last updated 20 August 2008 Copyright © 1996-2008 Unique You are visitor number 612896
This page last updated 09 August 2008 The Rare Chromosome Disorder Support Group There have been 376647 visits to this page
Website editor Beverly Searle BSc(Hons) PhD CBiol MIBiol