2014년 12월 9일 화요일

Rare Chromosome Disorder Guides - English

http://www.rarechromo.org/

Unique has been a source of mutual support and self-help to families of children with a rare chromosome disorder since it was founded by Edna Knight MBE in the UK in 1984 as the Trisomy 9 Support Group.
In 1989, with the support of the In Touch Trust and Contact a Family, the group expanded to include families whose children have any rare chromosome disorder. In 1993 the group was granted Charity Status and the new logo Unique was adopted.
In 1996, Unique launched its comprehensive computerised database to collect information about all aspects of how specific rare chromosome disorders affect individual members over a lifetime. In January 1999, Unique was awarded a 3 year grant by the National Lottery Charities Board to fund a full-time Development Officer and a part-time Family Support Officer. In April 1999, the group's first website was launched and membership stood at just 1192 families.
In 2003, other short-term grants allowed the group to employ a full-time Information Officer to research and produce family-friendly information guides on specific rare chromosome disorders. At the same time, a part-time Assistant Information Officer was employed to produce information on topics such as behaviour, communication, education and so on. A part-time Finance and Fundraising Officer joined us in 2004.
By early 2013, group membership had risen steeply to over10,000 families, representing over 14,000 individuals with a rare chromosome disorder in over 90 countries worldwide. With at least 100 new families now joining us each month, the rate of growth of our membership shows no signs of slowing down! As more sophisticated methods of analysing people’s chromosomes and DNA, like microarrays and next generation sequencing, many more previously undiagnosed people will be receiving a diagnosis of a rare genetic or genomic disorder. Consequently we expect our membership to continue to rise rapidly for the foreseeable future. Of necessity, our team has had to grow to keep pace with the huge increase in our workload.
Over these many years, we have worked very hard to raise awareness of Unique among families and individuals affected by rare chromosome disorders. We have also been spreading awareness of rare chromosome disorders to professionals and to the general public so that they too have an appreciation of the extraordinary challenges our members face. However, securing grants to pay for this work is becoming much more difficult with fewer funding opportunities available and many more charities competing for the same grants. Please help us with donations and fundraising so that we can continue our essential work.

TitleWeb VersionPrint VersionQuick ReadOther Versions
Chromosome 1  
1p interstitial deletionsWeb VersionPrint Version  
1p36 deletionsWeb VersionPrint VersionQuick Read 
1q21.1 microdeletionsWeb VersionPrint Version  
1q21.1 microduplicationsWeb VersionPrint Version  
1q4 deletionsWeb VersionPrint VersionQuick Read 
Duplications of 1qWeb VersionPrint Version  
Supernumerary ring chromosome 1Web VersionPrint Version  
Chromosome 2  
2p deletionsWeb VersionPrint Version  
2p15p16.1 microdeletion syndromeWeb VersionPrint Version  
2p16.3 (NRXN1) deletionsWeb VersionPrint Version  
2q23.1 microdeletion syndromeWeb VersionPrint Version  
2q24.3 deletionsWeb VersionPrint Version  
2q32 deletions and microdeletionsWeb VersionPrint Version  
2q32 deletions and microdeletions FrenchWeb VersionPrint Version  
2q33.1 deletions and other deletions between 2q31 and 2q33Web VersionPrint Version  
2q37 deletion syndromeWeb VersionPrint VersionQuick Read 
2q37 deletions adults adolescentsWeb VersionPrint Version  
Duplications of 2pWeb VersionPrint Version  
Duplications of 2qWeb VersionPrint Version  
Ring 2Web VersionPrint VersionQuick Read 
Chromosome 3  
3p25 deletionsWeb VersionPrint VersionQuick Read 
3p26 deletionsWeb VersionPrint Version  
3q13 deletions and microdeletionsWeb VersionPrint Version  
3q29 Duplications and MicroduplicationsWeb VersionPrint Version  
3q29 deletions and microdeletionsWeb VersionPrint Version  
Duplications of 3qWeb VersionPrint Version  
Chromosome 4  
4p 8p TranslocationWeb VersionPrint Version  
4p DuplicationsWeb VersionPrint VersionQuick Read 
4q deletions between 4q11 and 4q22Web VersionPrint Version  
4q deletions between 4q21 and 4q22Web VersionPrint Version  
4q deletions between 4q21 and 4q31Web VersionPrint Version  
4q deletions from 4q31 and beyondWeb VersionPrint Version  
Duplications of 4qWeb VersionPrint Version  
Chromosome 5  
5p Trisomy 5p Duplications of 5p15Web VersionPrint Version  
5p Trisomy 5p Inverted duplication and deletion of 5pWeb Version   
5p Trisomy 5p Inverted duplication and deletion of 5p Print Version  
5p Trisomy Duplications of 5p13 and 5p14Web VersionPrint Version  
5p Trisomy Duplications of the whole 5p armWeb VersionPrint Version  
5p Trisomy Microduplications of 5p13 and 5p14Web VersionPrint Version  
5q deletions including 5q22Web VersionPrint VersionQuick Read 
5q14.3 deletionsWeb VersionPrint Version  
Chromosome 6  
6p Deletions from 6p25 and the end of the chromosomeWeb VersionPrint Version  
6p deletions  Quick Read 
6q deletions 6q11 to 6q16Web VersionPrint Version  
6q deletions 6q13 to 6q14Web VersionPrint Version  
6q deletions 6q15 to 6q23Web VersionPrint Version  
6q deletions from 6q23 to 6q24Web VersionPrint Version  
6q deletions from 6q25Web VersionPrint Version  
6q deletions from 6q26 and 6q27Web VersionPrint Version  
Duplications of 6pWeb VersionPrint Version  
Duplications of 6qWeb VersionPrint Version  
Chromosome 7  
7q deletions between 7q21 7q32Web VersionPrint Version  
7q deletions proximal interstitialWeb VersionPrint Version  
7q duplicationsWeb VersionPrint VersionQuick Read 
7q11.23 duplicationsWeb VersionPrint Version  
7q32q34 DeletionsWeb VersionPrint Version  
7q36 deletionsWeb VersionPrint VersionQuick Read 
Chromosome 8  
4p 8p TranslocationWeb VersionPrint Version  
8p duplicationsWeb VersionPrint VersionQuick Read 
8p inv dup delWeb VersionPrint VersionQuick Read 
8p23 deletionsWeb VersionPrint VersionQuick Read 
8p23 duplication Print Version  
8p23 duplicationsWeb Version   
8q duplicationsWeb VersionPrint VersionQuick Read 
Supernumerary chromosome 8Web VersionPrint Version  
Trisomy 8 MosaicismWeb VersionPrint VersionQuick Read 
Trisomy 8 mosaicism in adultsWeb VersionPrint Version  
Chromosome 9  
9p deletionsWeb VersionPrint VersionQuick Read 
9p24 deletionsWeb VersionPrint Version  
9q34 duplication syndromeWeb VersionPrint Version  
Duplications of 9pWeb VersionPrint Version  
Kleefstra SyndromeWeb VersionPrint Version  
Ring 9Web VersionPrint Version  
Tetrasomy 9pWeb VersionPrint Version  
Trisomy 9 mosaicismWeb VersionPrint VersionQuick Read 
Chromosome 10  
10p deletionsWeb VersionPrint Version  
10q22q24 deletionsWeb VersionPrint Version  
10q25 and 10q26 deletionsWeb VersionPrint VersionQuick Read 
Duplications of 10pWeb VersionPrint Version  
Duplications of 10qWeb VersionPrint Version  
Chromosome 11  
11 22 TranslocationWeb VersionPrint Version  
11q deletion disorder Jacobsen syndromeWeb VersionPrint Version  
Emanuel syndromeWeb VersionPrint Version  
Chromosome 12  
12q deletionsWeb VersionPrint Version  
12q14 microdeletionsWeb VersionPrint Version  
Duplications of 12pWeb VersionPrint Version  
Pallister-Killian syndromeWeb VersionPrint VersionQuick Read 
Chromosome 13  
13q deletions including RB1Web VersionPrint Version  
13q deletions variousWeb VersionPrint Version  
13q distal interstitial deletionsWeb VersionPrint Version  
Deletions including the end of 13qWeb VersionPrint Version  
Ring 13Web VersionPrint VersionQuick Read 
Chromosome 14  
14q deletions between 14q22 14q32Web VersionPrint Version  
14q deletions from 14q31 and 14q32.1Web VersionPrint Version  
14q deletions from 14q32.2 and 14q32.3Web VersionPrint Version  
14q deletions proximal to 14q22Web VersionPrint Version  
Duplications of 14q distalWeb VersionPrint Version  
Ring 14Web VersionPrint VersionQuick Read 
Trisomy 14 mosaicismWeb VersionPrint Version  
Uniparental Disomy 14Web VersionPrint VersionQuick Read 
Chromosome 15  
15q DeletionsWeb VersionPrint Version  
15q11.2 microdeletionsWeb VersionPrint Version  
15q13.3 microdeletion syndromeWeb VersionPrint Version  
15q13.3 microduplicationsWeb VersionPrint Version  
15q24 microdeletion syndromeWeb VersionPrint Version  
15q26 deletionsWeb VersionPrint Version  
Duplications of 15qWeb VersionPrint Version  
Idic 15Web VersionPrint VersionQuick Read 
Ring 15Web VersionPrint VersionQuick Read 
Chromosome 16  
16p proximal deletionsWeb VersionPrint Version  
16p11 2 microdeletionsWeb VersionPrint Version  
16p11.2 microduplicationsWeb VersionPrint Version  
16p13 deletionsWeb VersionPrint Version  
16p13.11 microdeletionsWeb VersionPrint Version  
16p13.11 microduplicationsWeb VersionPrint Version  
16p13.3 duplications and microduplicationsWeb VersionPrint Version  
16q DeletionsWeb VersionPrint Version  
Duplications of 16pWeb VersionPrint Version  
Duplications of proximal 16qWeb VersionPrint Version  
Mosaic Trisomy 16Web VersionPrint Version  
Chromosome 17  
17p13 1 and 17p13 2 microdeletionsWeb VersionPrint Version  
17p13 3 microdeletionsWeb VersionPrint Version  
17q12 microdeletionsWeb VersionPrint Version  
17q12 microduplicationsWeb VersionPrint Version  
17q21 31 duplicationsWeb VersionPrint Version  
Duplications of 17pWeb VersionPrint VersionQuick Read 
Koolen-De Vries Syndrome (17q21.31 microdeletions)Web VersionPrint Version  
Chromosome 18  
18p deletionsWeb VersionPrint Version  
18q deletions from 18q11.2 to 18q21.2Web VersionPrint Version  
18q deletions from 18q21 and beyondWeb VersionPrint Version  
Ring 18Web VersionPrint VersionQuick Read 
Chromosome 19  
19p13.2 microdeletionsWeb VersionPrint Version  
Chromosome 20  
20p deletionsWeb VersionPrint Version  
Duplications of 20pWeb VersionPrint Version  
Ring 20Web VersionPrint Version  
Chromosome 21  
21q deletionsWeb VersionPrint VersionQuick Read 
Ring 21Web VersionPrint VersionQuick Read 
Chromosome 22  
11 22 TranslocationWeb VersionPrint Version  
22q11.2 deletions syndrome (Velo-Cardio-Facial Syndrome)Web VersionPrint Version  
22q11.2 distal deletion syndromeWeb VersionPrint Version  
22q11.2 duplicationsWeb VersionPrint Version  
22q12q13 duplicationsWeb VersionPrint Version  
22q13 deletionsWeb VersionPrint VersionQuick Read 
Emanuel syndromeWeb VersionPrint Version  
Ring 22Web VersionPrint VersionQuick Read 
Chromosome X  
Disclosing about XXX for girlsWeb Version   
Disclosing about XXX for parentsWeb Version   
Pentasomy XWeb VersionPrint VersionQuick Read 
Tetrasomy XWeb VersionPrint VersionQuick Read 
Triple X syndrome Trisomy XWeb VersionPrint Version  
XXXXYWeb VersionPrint VersionQuick Read 
XXXY syndromeWeb VersionPrint Version  
XXYY syndromeWeb VersionPrint VersionQuick Read 
Xp11.2 duplicationsWeb VersionPrint Version  
Xq28 duplicationsWeb VersionPrint Version  
Chromosome Y  
45X 46XY including Y chromosome rearrangementsWeb Version   
45X 46XY including Y chromosome rearrangements Print Version  
Disclosing about XYY for parentsWeb Version   
Disclosing about XYY for boysWeb Version   
XXYY syndromeWeb VersionPrint VersionQuick Read 
XYYWeb VersionPrint VersionQuick Read 
XYYY syndromeWeb VersionPrint VersionQuick Read 
Other  
4q- Parents PerspectiveWeb Version   
Array CGHWeb VersionPrint VersionQuick Read 
Balanced insertional translocations  Quick Read 
Balanced translocationsWeb VersionPrint Version  
DNA Sequencing (Whole Genome and Exome)Web VersionPrint Version  
Diploid triploid Children  Quick Read 
Diploidy triploidyWeb VersionPrint Version  
FISHWeb VersionPrint VersionQuick Read 
InversionsWeb VersionPrint Version  
Robertsonian TranslocationsWeb Version   
Small supernumerary marker chromosomes (sSMC)Web VersionPrint Version  
Triploid PregnanciesWeb Version   
TriploidyWeb VersionPrint Version  
Reports  
1p36 study day reportWeb Version   
2q37 Deletion Study Weekend ReportWeb Version   
4q Deletions Study Weekend ReportWeb Version   
8p23 Deletions and Inv Dup Del 8p Study Weekend ReportWeb Version   
Kleefstra Syndrome Study Weekend ReportWeb Version   
Pallister Killian Syndrome Study Weekend ReportWeb Version   
XXX Study Day ReportWeb Version   
XYY Study Day ReportWeb Version   
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