Welcome to Unique |
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The info@rarechromo.org helpline will not be available until the 20th October. In the meantime, please email Satnam on satnam@rarechromo.org with your enquiries.
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
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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
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Miscellaneous disorders include
- uniparental disomies (UPD)
- X-inactivation etc.
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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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Unique Christmas Cards for Sale
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Unique Conference 2008
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We're nearly at 500 Facebook Members!
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Did You Know...?
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Little Yellow Book
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Fundraising events
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Email News Alerts
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Why support Unique? A Plea From The Heart
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XYY Study Day Report
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Children with 4q- Syndrome: The Parents' Perspective
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New study of XXX & XYY children
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Unique families in Daily Mail
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| Read these Unique Family Stories |
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Unique Newsletter Summer 2008
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Unique Conference Report 2005
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