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Rare Chromosome Disorder & Single Gene Guides - English

We have been collecting information about specific chromosome disorders, and more recently single gene disorders, in our comprehensive offline database for nearly 30 years and since 2003 have spent many thousands of hours producing family-friendly, medically-verified, disorder-specific information guides. Information on genetic changes is a very fast-moving field and Unique does its best to keep abreast of changing information and to review its published guides as needed. New guides about other chromosome and single gene disorders and guides translated into many different languages are coming on stream all the time. To find out about the exacting process we adopted to produce these guides, please view our disorder guide protocol description.

Just click on the relevant title in the table below to download the Unique guide to the disorder in which you are interested. Chromosome disorders guides are listed under the relevant chromosome number. Single gene disorder guides can be found at the bottom of the page.

Translations of some of these guides can be found under Disorder Guides Translations

Whether you are a family or professional or a member of the general public, please help us to continue this work by being generous with your donations or fundraising. If you own a company or your employer makes donations to charities, why not consider sponsoring one of our guides? Its a great way to help us and good advertising! Just contact craig@rarechromo.org to discuss further.

Before downloading any of our guides, we ask you to please read and adhere to our Disclaimer and Copyright Notice.


Title Web Version Print Version Quick Read Other Versions
Chromosome 1  
1p interstitial deletions Web Version
Print Version
   
1p36 deletions Web Version
Print Version
Quick Read
 
1q duplications Web Version
Print Version
   
1q21.1 microdeletions Web Version
Print Version
   
1q21.1 microduplications Web Version
Print Version
   
1q4 deletions Web Version
Print Version
Quick Read
 
GATAD2B     Quick Read
 
MPPH syndrome     Quick Read
 
Supernumerary ring chromosome 1 Web Version
Print Version
   
Chromosome 2  
2p deletions Web Version
Print Version
   
2p duplications Web Version
Print Version
   
2p15p16.1 microdeletion syndrome Web Version
Print Version
   
2p16.3 (NRXN1) deletions Web Version
Print Version
   
2q duplications Web Version
Print Version
   
2q23.1 microdeletion syndrome Web Version
Print Version
   
2q24.3 microdeletions Web Version
Print Version
   
2q32 deletions and microdeletions Web Version
Print Version
   
2q33.1 deletions and other deletions between 2q31 and 2q33 Web Version
Print Version
   
2q37 deletion syndrome Web Version
Print Version
Quick Read
 
2q37 deletions in adults and adolescents Web Version
Print Version
   
Ring 2 Web Version
Print Version
Quick Read
 
SATB2 syndrome     Quick Read
 
SCN2A related conditions Web Version
Print Version
   
SOX11 syndrome     Quick Read
 
Chromosome 3  
3p25 deletions Web Version
Print Version
Quick Read
 
3p26 deletions Web Version
Print Version
   
3q duplications Web Version
Print Version
   
3q13 deletions and microdeletions Web Version
Print Version
   
3q29 deletions and microdeletions Web Version
Print Version
   
3q29 duplications and microduplications Web Version
Print Version
   
CTNNB1 syndrome     Quick Read
 
SETD5     Quick Read
 
Chromosome 4  
4p 8p Translocation Web Version
Print Version
   
4p duplications Web Version
Print Version
Quick Read
 
4q deletions between 4q11 and 4q22 Web Version
Print Version
   
4q deletions between 4q21and 4q22 Web Version
Print Version
   
4q deletions between 4q21and 4q31 Web Version
Print Version
   
4q deletions from 4q31and beyond Web Version
Print Version
   
4q duplications Web Version
Print Version
   
Chromosome 5  
5p Trisomy 5p Duplications of 5p15 Web Version
Print Version
   
5p Trisomy 5p Inverted duplication and deletion of 5p Web Version
Print Version
   
5p Trisomy Duplications of 5p13 and 5p14 Web Version
Print Version
   
5p Trisomy Duplications of the whole 5p arm Web Version
Print Version
   
5p Trisomy Microduplications of 5p13 and 5p14 Web Version
Print Version
   
5q deletions including 5q22 Web Version
Print Version
Quick Read
 
5q14.3 deletions Web Version
Print Version
   
PURA and 5q31 Web Version
Print Version
   
Chromosome 6  
6p Deletions from 6p25 and the end of the chromosome Web Version
Print Version
   
6p deletions     Quick Read
 
6p duplications Web Version
Print Version
   
6q deletions 6q11 to 6q16 Web Version
Print Version
   
6q deletions 6q13 to 6q14 Web Version
Print Version
   
6q deletions 6q15 to 6q23 Web Version
Print Version
   
6q deletions from 6q23 to 6q24 Web Version
Print Version
   
6q deletions from 6q25 Web Version
Print Version
   
6q deletions from 6q26 and 6q27 Web Version
Print Version
   
6q duplications Web Version
Print Version
   
ARID1B syndrome     Quick Read
 
SYNGAP1 syndrome Web Version
Print Version
   
Chromosome 7  
7q Duplications Web Version
Print Version
   
7q deletions between 7q21 and 7q32 Web Version
Print Version
   
7q deletions proximal interstitial Web Version
Print Version
   
7q duplications     Quick Read
 
7q11.23 duplication syndrome Web Version
Print Version
   
7q32q34 deletions Web Version
Print Version
   
7q36 deletions Web Version
Print Version
Quick Read
 
Chromosome 8  
4p 8p Translocation Web Version
Print Version
   
8p duplications Web Version
Print Version
Quick Read
 
8p interstitial deletions including 8p12 Web Version
Print Version
   
8p inverted duplication and deletion Web Version
Print Version
Quick Read
 
8p23 deletions Web Version
Print Version
Quick Read
 
8p23 duplications Web Version
Print Version
   
8q duplications Web Version
Print Version
Quick Read
 
Supernumerary chromosome 8 Web Version
Print Version
   
Trisomy 8 Mosaicism Web Version
Print Version
Quick Read
 
Trisomy 8 mosaicism in adults Web Version
Print Version
   
Chromosome 9  
9p deletions Web Version
Print Version
Quick Read
 
9p duplications Web Version
Print Version
   
9p24 deletions Web Version
Print Version
   
9q34 duplication syndrome Web Version
Print Version
   
Disorders of STXBP1     Quick Read
 
Kleefstra Syndrome Web Version
Print Version
   
Kleefstra syndrome and mental health Web Version
Print Version
   
Ring 9 Web Version
Print Version
   
Tetrasomy 9p Web Version
Print Version
   
Trisomy 9 mosaicism Web Version
Print Version
Quick Read
 
Chromosome 10  
10p deletions Web Version
Print Version
   
10p duplications Web Version
Print Version
   
10p proximal deletions from 10p11 and 10p12 Web Version
Print Version
   
10q duplications Web Version
Print Version
   
10q22q24 deletions Web Version
Print Version
   
10q25 and 10q26 deletions Web Version
Print Version
Quick Read
 
KIF11 associated disorder     Quick Read
 
Say-Barber-Biesecker Syndrome     Quick Read
 
Chromosome 11  
11 22 Translocation Web Version
Print Version
   
11q deletion disorder Jacobsen syndrome Web Version
Print Version
   
Emanuel syndrome Web Version
Print Version
   
PACS1 related syndrome Web Version
Print Version
   
Chromosome 12  
12p duplications Web Version
Print Version
   
12q deletions Web Version
Print Version
   
12q14 microdeletions Web Version
Print Version
   
GRIN2B related syndrome Web Version
Print Version
   
MPPH syndrome     Quick Read
 
Pallister-Killian syndrome Web Version
Print Version
Quick Read
 
Chromosome 13  
13q deletions including RB1 Web Version
Print Version
   
13q deletions including the end of 13q Web Version
Print Version
   
13q deletions various Web Version
Print Version
   
13q distal interstitial deletions Web Version
Print Version
   
Ring 13 Web Version
Print Version
Quick Read
 
Chromosome 14  
14q deletions between 14q22 and 14q32 Web Version
Print Version
   
14q deletions from 14q31 and 14q32 Web Version
Print Version
   
14q deletions from 14q32.2 and 14q32.3 Web Version
Print Version
   
14q deletions proximal to 14q22 Web Version
Print Version
   
14q distal duplications Web Version
Print Version
   
14q11.2 deletions Web Version
Print Version
   
14q12 deletions Web Version
Print Version
   
14q13 deletions Web Version
Print Version
   
Ring 14 Web Version
Print Version
Quick Read
 
Trisomy 14 mosaicism Web Version
Print Version
   
Uniparental Disomy 14 Web Version
Print Version
Quick Read
 
Chromosome 15  
15q deletions Web Version
Print Version
   
15q duplications Web Version
Print Version
   
15q11.2 microdeletions Web Version
Print Version
   
15q13.3 microdeletion syndrome Web Version
Print Version
   
15q13.3 microduplications Web Version
Print Version
   
15q24 microdeletion syndrome Web Version
Print Version
   
15q26 deletions Web Version
Print Version
   
Idic(15) Web Version
Print Version
Quick Read
 
Ring 15 Web Version
Print Version
Quick Read
 
Chromosome 16  
16p duplications Web Version
Print Version
   
16p proximal deletions Web Version
Print Version
   
16p11.2 microdeletions Web Version
Print Version
   
16p11.2 microduplications Web Version
Print Version
   
16p13 deletions Web Version
Print Version
   
16p13.11 microdeletions Web Version
Print Version
   
16p13.11 microduplications Web Version
Print Version
   
16p13.3 duplications and microduplications Web Version
Print Version
   
16q deletions Web Version
Print Version
   
16q proximal duplications Web Version
Print Version
   
ANKRD11 and KBG syndrome     Quick Read
 
Floating-Harbor syndrome Web Version
Print Version
   
Trisomy 16 mosaic Web Version
Print Version
   
Chromosome 17  
17p duplications Web Version
Print Version
Quick Read
 
17p13.1 and 17p13.2 microdeletions Web Version
Print Version
   
17p13.3 microdeletions Web Version
Print Version
   
17q12 microdeletions Web Version
Print Version
   
17q12 microduplications Web Version
Print Version
   
17q21.31 duplications Web Version
Print Version
   
Koolen-De Vries syndrome Web Version
Print Version
   
Koolen-de Vries Syndrome Study Weekend Report Web Version
Print Version
   
Chromosome 18  
18p deletions Web Version
Print Version
   
18q deletions from 18q11.2 to 18q21.2 Web Version
Print Version
   
18q deletions from 18q21 and beyond Web Version
Print Version
   
Ring 18 Web Version
Print Version
Quick Read
 
Chromosome 19  
19p13.12 microdeletions Web Version
Print Version
   
19p13.13 microdeletions Web Version
Print Version
   
19p13.2 microdeletions Web Version
Print Version
   
19p13.3 microdeletions Web Version
Print Version
   
MPPH syndrome     Quick Read
 
Chromosome 20  
20p deletions Web Version
Print Version
   
20p duplications Web Version
Print Version
   
ADNP related syndrome Web Version
Print Version
   
Ring 20 Web Version
Print Version
   
Chromosome 21  
21q deletions Web Version
Print Version
Quick Read
 
DYRK1A and 21q22 13 deletion syndrome Web Version
Print Version
   
Ring 21 Web Version
Print Version
Quick Read
 
Chromosome 22  
11 22 Translocation Web Version
Print Version
   
22q11 2 deletion syndrome (Velo-Cardio-Facial Syndrome) Web Version
Print Version
   
22q11.2 distal deletion syndrome Web Version
Print Version
   
22q11.2 microduplications Web Version
Print Version
   
22q12q13 duplications Web Version
Print Version
   
22q13 deletions Phelan McDermid syndrome Web Version
Print Version
Quick Read
 
Emanuel syndrome Web Version
Print Version
   
Ring 22 Web Version
Print Version
Quick Read
 
Chromosome X  
DDX3X syndrome Web Version
Print Version
   
Disclosing about XXX for girls Web Version
     
Disclosing about XXX for parents Web Version
     
MED12 related disorders Web Version
Print Version
   
Pentasomy X Web Version
Print Version
Quick Read
 
Tetrasomy X Web Version
Print Version
Quick Read
 
Triple X syndrome Trisomy X Web Version
Print Version
   
XXXXY syndrome Web Version
Print Version
Quick Read
 
XXXY syndrome Web Version
Print Version
   
XXYY syndrome Web Version
Print Version
Quick Read
 
Xp11.2 duplications Web Version
Print Version
   
Xq28 duplications Web Version
Print Version
   
Chromosome Y  
45X 46XY including Y chromosome rearrangements Web Version
Print Version
   
Disclosing about XYY for parents Web Version
     
Disclosing about XYY for boys Web Version
     
XXYY syndrome Web Version
Print Version
Quick Read
 
XYY Web Version
Print Version
Quick Read
 
XYYY syndrome Web Version
Print Version
Quick Read
 
Other  
4q- Parents Perspective Web Version
     
Array CGH Web Version
Print Version
Quick Read
 
Balanced insertional translocations     Quick Read
 
Balanced translocations Web Version
Print Version
   
DNA sequencing (whole genome and exome) Web Version
Print Version
   
Diploid Triploid Children     Quick Read
 
Diploid Triploid Mosaicism Web Version
Print Version
   
FISH Web Version
Print Version
Quick Read
 
Inversions Web Version
Print Version
   
Robertsonian Translocations Web Version
Print Version
   
Small supernumerary marker chromosomes (sSMC) Web Version
Print Version
   
Triploid Pregnancies     Quick Read
 
Triploidy Web Version
Print Version
   
Reports  
1p36 study day report Web Version
     
2q37 Deletion Study Weekend Report Web Version
     
4q Deletions Study Weekend Report Web Version
     
8p23 Deletions and Inv Dup Del 8p Study Weekend Report Web Version
     
Kleefstra Syndrome Study Weekend Report Web Version
     
Koolen-de Vries Syndrome Study Weekend Report Web Version
Print Version
   
Pallister Killian Syndrome Study Weekend Report Web Version
     
XXX Study Day Report Web Version
     
XYY Study Day Report Web Version
     
Single Gene Disorders  
ADNP related syndrome Web Version
Print Version
   
ANKRD11 and KBG syndrome     Quick Read
 
ARID1B syndrome     Quick Read
 
CTNNB1 syndrome     Quick Read
 
DDX3X syndrome Web Version
Print Version
   
DYRK1A and 21q22 13 deletion syndrome Web Version
Print Version
   
Floating-Harbor syndrome Web Version
Print Version
   
GATAD2B     Quick Read
 
GRIN2B related syndrome Web Version
Print Version
   
KIF11 associated disorder     Quick Read
 
MED12 related disorders Web Version
Print Version
   
MPPH syndrome     Quick Read
 
PACS1 related syndrome Web Version
Print Version
   
PURA and 5q31 Web Version
Print Version
   
SATB2 syndrome     Quick Read
 
SCN2A related conditions Web Version
Print Version
   
SETD5     Quick Read
 
SOX11 syndrome     Quick Read
 
STXBP1 Disorders     Quick Read
 
SYNGAP1 syndrome Web Version
Print Version
   
Say-Barber-Biesecker Syndrome     Quick Read
 

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