Understanding Rare Chromosome and Gene Disorders
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Rare Chromosome & Gene Disorder Guides

Below you will find our free Information Guides to specific chromosome and gene disorders, as well as guides translated into various languages. Do scroll down to the bottom of the ‘Chromosome Disorder Guides – English’ table to view guides and reports on a wide range of related general topics like DNA sequencing, deletions and microdeletions, inversions etc. Be sure to check back regularly as new and updated guides are added.

To read how we research and produce the guides, please click here.

Please click View + to expand each list and select the guide related to the chromosome or gene disorder or general topic in which you are interested.

Information is not intended to replace professional medical advice. Before downloading a guide, we recommend reading our Disclaimer and Copyright Notice.   (Page last updated 28th February 2020).

Chromosome Disorder Guides - English
View

Chromosome 1

1p Interstitial Deletions View
1p36 Deletions View
1q Duplications View
1q21.1 Microdeletions View
1q21.1 Microduplications View
1q21.1 microduplications My Chromosome Story View
1q23.3microdeletion View
1q4 Deletions View
GATAD2B View
MPPH Syndrome View
Supernumerary Ring Chromosome 1 View

Chromosome 2

2p Deletions View
2p Duplications View
2p15p16.1 Microdeletion Syndrome View
2p16.3 (NRXN1) Deletions View
2q Duplications View
2q13 Microdeletions View
2q13 Microdeletions My Chromosome Story View
2q13 Microduplications View
2q23.1 Microdeletion Syndrome View
2q24.3 Microdeletions View
2q32 Deletions And Microdeletions View
2q33.1 Deletions And Other Deletions Between 2q31 And 2q33 View
2q37 Deletion Syndrome View
2q37 Deletions In Adults And Adolescents View
KIF1A View
MYT1L View
Ring 2 View
SATB2 Syndrome View
SCN2A Related Conditions View
SOX11 Syndrome And 2p25 Deletion Syndrome View

Chromosome 3

3p Duplications View
3p25 Deletions View
3p26 Deletions View
3q Duplications View
3q13 Deletions And Microdeletions View
3q29 Deletions And Microdeletions View
3q29 Duplications And Microduplications View
CTNNB1 Syndrome View
SETD5 View

Chromosome 4

4p 8p Translocation View
4p Duplications View
4q Deletions Between 4q11 And 4q22 View
4q Deletions Between 4q21 And 4q22 View
4q Deletions Between 4q21and 4q31 View
4q Deletions From 4q31and Beyond View
4q Duplications View
Wolf-Hirschhorn Syndrome View

Chromosome 5

5p Trisomy 5p Inverted Duplication And Deletion Of 5p View
5p Trisomy 5p Microduplications Of 5p13 5p14 View
5p Trisomy Duplications Of 5p13 And 5p14 View
5p Trisomy Duplications Of The Whole 5p Arm View
5q Deletions Including 5q22 View
5q14 duplications View
5q14.3 Deletions View
5q35 Duplications View
MEF2C View
PURA And 5q31 View
Trisomy 5p Duplications Of 5p15 View

Chromosome 6

6p Deletions View
6q Deletions 6q11 To 6q16 View
6q Deletions 6q13 To 6q14 View
6q Deletions 6q15 To 6q23 View
6q Deletions From 6q23 To 6q24 View
6q Deletions From 6q25 View
6q Deletions From 6q26 And 6q27 View
ARID1B Syndrome View
Deletions From 6p25 And The End Of The Chromosome View
Duplications Of 6p View
Duplications Of 6q View
SYNGAP1 Syndrome View

Chromosome 7

7q Deletions Between 7q21 And 7q32 View
7q Deletions Proximal Interstitial View
7q Duplications View
7q11.23 Duplication Syndrome View
7q21.11 Microdeletions View
7q32q34 Deletions View
7q36 Deletions View
FOXP2 Syndrome View

Chromosome 8

4p 8p Translocation View
8p Duplications View
8p Interstitial Deletions Including 8p12 View
8p Inverted Duplication Deletion View
8p23 Deletions View
8p23 Duplications View
8q Duplications View
KAT6A Syndrome View
PUF60 View
Supernumerary Chromosome 8 View
Trisomy 8 Mosaicism View
Trisomy 8 Mosaicism In Adults View

Chromosome 9

9p Coexisting Duplication And Deletion View
9p Deletions View
9p Duplication Syndrome My Chromosome Story View
9p Duplications View
9p24 Deletions View
9q Deletions Including 9q33 View
9q34 Duplication Syndrome View
Disorders Of STXBP1 View
Kleefstra Syndrome View
Kleefstra Syndrome And Mental Health View
Ring 9 View
Tetrasomy 9p View
Trisomy 9 Mosaicism View

Chromosome 10

10p Deletions View
10p Duplications View
10p Proximal Deletions From 10p11 And 10p12 View
10q Duplications View
10q11.22q11.23 Deletions and Microdeletions View
10q11.22q11.23 Deletions and Microdeletions My Chromosome Story View
10q25 And 10q26 Deletions View
Deletions between 10q22 and 10q24 View
KIF11 Associated Disorder View
Say-Barber-Biesecker Syndrome View
WAC Syndrome (DeSanto-Shinawi Syndrome) View

Chromosome 11

11 22 Translocation View
11q Deletion Disorder Jacobsen Syndrome View
Emanuel Syndrome View
PACS1 Related Syndrome View

Chromosome 12

12p Duplications View
12q Deletions View
12q14 Microdeletions View
Cantu Syndrome View
GRIN2B Related Syndrome View
MPPH Syndrome View
Pallister-Killian Syndrome View

Chromosome 13

13q Deletions Including RB1 View
13q Deletions Including The End Of 13q View
13q Deletions Various View
13q Distal Interstitial Deletions View
Ring 13 View

Chromosome 14

14q Deletions Between 14q22 And 14q32 View
14q Deletions From 14q31 And 14q32 View
14q Deletions From 14q32.2 And 14q32.3 View
14q Deletions Proximal To 14q22 View
14q Distal Duplications View
14q11.2 Deletions View
14q12 Deletions View
14q13 Deletions View
Ring 14 View
Trisomy 14 Mosaicism View
Uniparental Disomy 14 View

Chromosome 15

15q Deletions View
15q Duplications View
15q11.2 Microdeletions View
15q11.2 Microduplications View
15q11q13 Duplications View
15q11q13 Duplications My Chromosome Story View
15q13.1q13.2 Deletions My Chromosome Story View
15q13.3 Microdeletion Syndrome View
15q13.3 Microduplications View
15q24 Microdeletion Syndrome View
15q26 Deletions View
Idic(15) View
Ring 15 View

Chromosome 16

16p Duplications View
16p Proximal Deletions View
16p11 2 Microduplications View
16p11.2 Microdeletions View
16p12.2 Deletions View
16p13 Deletions View
16p13.11 Microdeletions View
16p13.11 Microduplications View
16p13.3 Duplications And Microduplications View
16q Deletions View
16q Proximal Duplications View
ANKRD11 And KBG Syndrome View
GRIN2A Related Syndrome View
Trisomy 16 Mosaic View

Chromosome 17

17p Duplications View
17p13.1 And 17p13.2 Microdeletions View
17p13.3 Microdeletions View
17q12 Microdeletions View
17q12 Microduplications View
17q21.31 Duplications View
Koolen-De Vries Syndrome View
Koolen-de Vries Syndrome Study Weekend Report View

Chromosome 18

18p Deletions View
18q Deletions From 18q11.2 To 18q21.2 View
18q Deletions From 18q21 And Beyond View
GATA6 View
Isochromosome 18p View
Ring 18 View

Chromosome 19

19p13.12 Microdeletions View
19p13.13 Microdeletions View
19p13.2 Microdeletions View
19p13.3 Microdeletions View
MPPH Syndrome View

Chromosome 20

20p Deletions View
20p Duplications View
20q13.33 Deletions View
ADNP Related Syndrome View
Bohring-Opitz Syndrome (BOS) View
Ring 20 View

Chromosome 21

21q Deletions View
DYRK1A And 21q22 13 Deletion Syndrome View
Ring 21 View

Chromosome 22

11 22 Translocation View
22q11 Deletion Syndrome Reproductive Choices - Easy Read View
22q11.2 Deletions Syndrome (Velo-Cardio-Facial Syndrome) View
22q11.2 Distal Deletion Syndrome View
22q11.2 Microduplications View
22q12q13 Duplications View
22q13 Deletions Phelan McDermid Syndrome View
Cat Eye Syndrome CES View
Emanuel Syndrome View
Ring 22 View

Chromosome_X

DDX3X Syndrome View
Disclosing_about_XXX_for_girls View
Disclosing_about_XXX_for_parents View
IQSEC2-related Disorder View
MED12 Related Disorders View
Norrie Disease View
Pentasomy_X View
Tetrasomy_X View
Triple_X_syndrome Trisomy_X View
X Inactivation View
Xp11.2 Duplications View
Xq28 Duplications View
XXXXY Syndrome View
XXXY Syndrome View
XXYY Syndrome View

Chromosome_Y

45X 46XY Including Y Chromosome Rearrangements View
Disclosing_about_XYY_ For_parents View
Disclosing_about_XYY_for_boys View
XXYY Syndrome View
XYY View
XYY Living With XYY View
XYYY Syndrome View

Other Topics

4q- Parents Perspective View
A Clinical Genetics Appointment View
Array CGH View
Balanced Insertional Translocations View
Balanced Translocations View
Deletions And Microdeletions View
Diploid Triploid Children View
Diploid Triploid Mosaicism View
DNA Sequencing (whole Genome And Exome) View
Duplications And Microduplications View
FISH View
Inversions View
Planning Your Next Child View
Robertsonian Translocations View
Small Supernumerary Marker Chromosomes (sSMCs) View
Triploid Pregnancies View
Triploidy View
Unbalanced Translocations View
Uniparental Disomy UPD View
Unique Guide Production View
X Inactivation View

Reports

1p36 Study Day Report View
2q37 Deletion Study Weekend Report View
4q Deletions Study Weekend Report View
8p23 Deletions And Inv Dup Del 8p Study Weekend Report View
Kleefstra Syndrome Study Weekend Report View
Koolen-de Vries Syndrome Study Weekend Report View
Pallister Killian Syndrome Study Weekend Report View
XXX Study Day Report View
XYY Study Day Report View
Chromosome Disorder Guides - Translations
View

Arabic

16p11.2 Microdeletions Arabic View
2q23.1 Microdeletion Syndrome Arabic View
Array CGH Arabic View

Chinese

1p36 Deletion Chinese View

Dansk

Mikroarray-baseret Komparativ Genomisk Hybridisering Danish View
Triple_X_Danish View

Deutsch

11q Deletion Disorder Jacobsen Syndrome German View
13q Verschiedene Deletionen German View
15 Idic 15 German View
15q11.2 Mikrodeletionen View
18 Ringchromosom 18 German View
1q21 Mikrodeletionen German View
1q21.1 Mikroduplikationen German View
1q4 Von 1q42 Deletion An German View
20p Duplikationen German View
22 Ringchromosom German View
2q23.1 Mikrodeletions-Syndrom German View
3p- Deletionssyndrom German View
4q Deletions Between 4q21 And 4q22 German View
6q Deletionen 6q15 Bis 6q23 German View
7q36 Deletionen German View
8 Trisomie 8 Mosaik German View
9 Trisomie 9 Mosaik German View
9p Duplikationen Auf 9p German View
Array CGH German View
Deletionen Und Mikrodeletionen German View
Duplikationen Und Mikroduplikationen German View
Kleine Uberzahlige Markerchromosomen German View
Koolen-De Vries Syndrome German View
Pallister-Killian Syndrome German View
Robertsonsche Translokationen German View
SOX11 Syndrome German.pdf View
Trisomie_X_German View
X_Pentasomie_German View
XYY German View

Espanol

10q25 Y10q26 Deleciones Spanish View
11q El Trastorno Por Supresion Terminal Sindrome De Jacobsen Spanish View
15q11.2 Microdeletions Spanish View
15q13 3 Microduplications Spanish View
16p11 2 Micro Duplicacion Spanish View
16p11.2 Microdeleciones Spanish View
16p13.11 Microduplicaciones Spanish View
17q12 Microdeleciones Spanish View
17q12 Microduplicaciones Spanish View
17q21.31 Microdeleciones Spanish View
18p Delecion Spanish View
18q Deleciones Del 18q11.2 Al 18q21.2 Spanish View
18q Deletions From 18q21 And Beyond Spanish View
1p36 Sindrome Delecion Spanish View
1q Deleciones 1q42 Y Mas Alla Spanish View
1q21.1 Microdeleciones Spanish View
1q21.1 Microduplicaciones Spanish View
22q11.2 Microduplicaciones Spanish View
22q13 Sindrome De Phelan McDermid O De La Supresion Spanish View
2p16 3 Delecion 2p16 3 (NRXN1) Spanish View
2q23.1 Sindrome De Microdelecion En 2q23 1 Spanish View
3p25 Deleciones 3p25 Tambien Llamadas 3p- (Menos) Spanish View
3p26 Deleciones View
3q29 Deleciones Y Microdeleciones Spanish View
45X 46XY Incluyendo Reorganizaciones Del Cromosoma Y Spanish View
4q Deletions Between 4q21 And 4q22 Spanish View
5q Deleciones Que Incluyen 5q22 View
6q11q16 Deleciones Spanish View
7q Duplicaciones Spanish View
7q11.23 Microduplicacion Spanish View
8p23 Delecion Spanish View
9 Mosaicismo De Trisomia 9 Spanish View
9p Duplicaciones View
9q Deleciones 9q Incluyendo 9q33 Spanish View
Cromosoma 13 En Anillo Spanish View
Deleciones Y Microdeleciones Spanish View
Disorders Of STXBP1 Spanish View
Duplicaciones And Microduplicaciones Spanish View
Duplicaciones Xq28 Spanish View
Emanuel Syndrome Spanish View
Floating-Harbor Syndrome Spanish View
Hibridacion Genomica Comparada Por Microarray Microchip Array Chip De CGH Spanish View
Idic 15 Spanish View
Ring 18 Spanish View
Sindrome De Kleefstra Spanish View
Sindrome De La Delecion 2q37 Spanish View
Sindrome De Microdelecion 15q13.3 Spanish View
Sindrome Relacionado Al Gen PACS1 View
Tetrasomia 9p SPANISH View
Translocaciones Equilibradas Spanish View
Triple_X_Spanish View
Trisomia 8 En Mosaico Spanish View
XXXXY Syndrome Spanish View
XXXY Syndrome Spanish View

Francais

10q26 Deletions French View
11 La Deletion 11q Terminale (syndrome De Jacobsen) View
12 Le Syndrome De Pallister Killian French View
13 Chromosme 13 En Anneau French View
13q Deletions De La Region 13q Terminale French View
14 Chromosome 14 En Anneau French View
15 Chromosome 15 En Anneau French View
15q Duplications French View
17p Duplications French View
17q21.31 Microdeletions French View
18 Chromosome 18 En Anneau French View
18q deletions from 18q21 and Beyond View
1p36 Syndrome De La Deletion 1p36 French View
1q21.1microduplications View
1q23.3 Microdeletions French View
1q4 Deletions French View
2 Chromosome 2 En Anneau French View
21 Chromosome 21 En Anneau French View
21q Deletions French View
22 Chromosome 22 En Anneau French View
22q13 Deletions Syndrome De Phelan McDermid French View
2q32 Deletions Et MicroDeletions French View
2q37 Deletions French View
3p25 Deletions French View
3q29 Deletions Et Microdeletions French View
3qDuplications 3q French View
4p Duplications French View
5q22 Deletions Incluant La Region 5q22 French View
6p Deletions French View
6q Deletions 6q De 6q26 A 6q27 Francais View
7q11.23 Syndrome Duplicationnel 7q11.23 French View
7q36 Deletions French View
8 Trisomie 8 En Mosaique French View
8p Inv Dup Del 8p French View
8p Les Duplications 8p French View
8p23 Deletions French View
8q Duplications French View
9 Trisomie 9 En Mosaique View
9p Deletions French View
BOS Syndrome Fench View
DDX3X Syndrome French View
Délétions 4q Depuis 4q31 Et Au Delà View
Deletions and microdeletions French View
Duplications 7q Entre 7q21 Et 7q36 French View
Duplications and microduplications French View
Hybridation Genomique Comparative Sur Puces (puces A ADN) French View
Insertions Chromosomique Equilibree French View
Isochromosome 18p French View
Pentasomie_X View
SOX5 syndrome Lamb Shaffer syndrome 12p12 deletions French View
Syndrome De Koolen-de Vries French View
Tetrasomie_X View
Translocations Equilibree French View
Translocations Robertsoniennes French View
Trisomy 5p Inverted Duplication Deletion Of 5p FRENCH View
Uniparental Disomy 14 French View
XXXXY_syndrome_French View
XXXY_syndrome_French View
XXYY_French View

Greek

Array CGH Greek View
Balanced Translocations Greek View
Inversions Greek View
XYY Greek View

Italiano

18p La Delezione Del Cromosoma 18p Italian View
18q Delezioni Distali Del Cromosoma Italian View
Condizioni Mediche Collegate Al Gene SCN2A View
Delezione Prossimale Del Braccio Lungo Del Cromosoma 18 Dalla Posizione Q11.2 Alla Posizione Q21.2 View
Ibridazione Genomica Comparativa Italian View
Idic15 Italian View
La Sindrome Di Bohring-Opitz (BOS) View
Ring 18 Italian View

Korean

ANKRD11 And KBG Syndrome Korean View

Nederlands

11q Terminale Deletie 11q Jacobsen Syndroom View
15q11.2 Microdeleties Dutch View
15q13 3 Microdeletie Syndroom Dutch View
15q13.3 Microduplicaties Dutch View
15q26 Deleties Dutch View
16p11 2 Microdeletie Dutch View
16p11.2 Microduplicaties Dutch View
16p13 11 Microdeleties Dutch View
19p13 2 Microdeleties Dutch View
1p36 Deletie Syndroom Dutch View
1q21 1 Microduplicaties Dutch View
1q21.1 Microdeleties Dutch View
22q11 2 Microduplicaties Dutch View
22q13 Deletions Dutch View
2p15p16 1 Microdeletie Syndroom Dutch View
2p16 3 (NRXN1) Deleties Dutch View
2q37 Deletions Adults Adolescents View
3p Duplicaties Dutch View
3p26 Deleties View
3q29 Deleties Dutch View
4q Duplicaties Dutch View
6p Deleties Vanaf 6p25 Dutch View
7q11 23 Duplicaties Dutch View
8p Interstitiele Deleties Inclusief 8p12 View
8p23 Deletie Syndroom Dutch View
8p23 Duplicatie Syndroom Dutch View
9p Duplicaties Dutch View
9q Interstitiele Deleties Inclusief 9q33 View
ADNP Related Syndrome Dutch View
ANKRD11 En KBG Syndroom DUTCH View
DDX3X Syndrome Dutch View
GATAD2B Dutch View
GRIN2A Syndroom Dutch View
GRIN2B Syndroom View
Idic(15) Dutch View
Isochromosoom 18p Dutch View
Kleefstra Syndroom Dutch View
Koolen-De Vries Syndroom View
MED12 Related Disorders Dutch View
Mozaiek Trisomie 8 Dutch View
Ring 22 Dutch View
Tetrasomie X Dutch View
Xq28 Duplicaties Dutch View

Polski

16p11.2 Mikroduplikacje 16p11.2 Polish View
18 Delecje 18p Polish View
1p36 Zespol Delecji Polish View
1q21.1 Mikrodelecji Polish View
48XXXY Zespol Polish View
49XXXXY Polish View
Array CGH Polish View
Translokacje Zrownowazone Polish View

Portugues

2q23.1 Sindroma De Microdelecao Portuguese View

Romana

Hibridizarea Genomica Comparativa Array CGH Romanian View

Russian

10p Proximal Deletions From 10p11 And 10p12 Russian View
10q Duplications Russian View
11q Deletion Disorder Jacobsen Syndrome Russian View
13q Deletions Including RB1 Russian View
13q Deletions Various Russian View
13q Distal Interstitial Deletions Russian View
14q11.2 Deletions Russian View
14q12 Deletions Russian View
14q13 Deletions Russian View
15q11.2 microduplications Russian View
15q11q13 Duplications Russian View
16p Duplications Of 16p Russian View
16p13.3 Duplications And Microduplications Russian View
17p Duplications Russian View
18q Deletions From 18q21 And Beyond Russian View
1p36 Deletions Russian View
1q4 Deletions Russian View
22q11.2 Deletion Syndrome (Velo-Cardio-Facial Syndrome) Russian View
22q13 Deletions Phelan McDermid Syndrome Russian View
2q37 Deletion Syndrome Russian View
2q37 Deletions Adults And Adolescents Russian View
3p25 Deletions Russian View
3p26 Deletions Russian View
4p 8p Translocation Russian View
4p Duplications Russian View
6p Duplications Russian View
6q Deletions 6q13q14 Russian View
7q32q34 Deletions Russian View
7q36 Deletions Russian View
8p Duplications Russian View
8p23 Deletions Russian View
8q Duplications Russian View
9p24 Deletions Russian View
Alazami Syndrome Russian View
ANKRD11 And KBG Syndrome Russian View
ARID1B Syndrome Russian View
ATRX-X Russian View
BWCFF Baraitser-Winter Cerebrofrontofacial Syndrome Russian View
CTNNB1 Syndrome Russian View
Deletions Including The End Of 13q Russian View
Disclosing_about_XXX_for_girls_RUSSIAN View
Disclosing_about_XYY_for_boys RUSSIAN View
Emanuel Syndrome Russian View
FOXP2 Syndrome Russian View
GATAD2B Russian View
GRIN2A Related Syndrome Russian View
Idic 15 Russian View
Isochromosome 18p Russian View
KIF11 Associated Disorder Russian View
KIF1A Russian View
Kleefstra Syndrome And Mental Health Russian View
Kleefstra Syndrome Russian View
Koolen-De-Vries Syndrome Russian View
Norrie Disease Russian View
PURA And 5q31 Russian View
Ring 18 Russian View
Ring 21 Russian View
Tetrasomy 9p Russian View
Tetrasomy_X_Russian View
Triple_X_Syndrome_Trisomy_X_Russian View
WHS Russian View
XYY Russian View
Single Gene Disorder Guides
View

Single Gene Disorder Guides

2p16.3 (NRXN1) Deletions View
ADNP Related Syndrome View
Alazami Syndrome View
ANKRD11 And KBG Syndrome View
ARID1B Syndrome View
ATRX-X View
Bainbridge-Roper Syndrome ASXL3 View
Bohring-Opitz Syndrome (BOS) View
BWCFF Baraitser-Winter Cerebrofrontofacial Syndrome View
CACNA1C Timothy syndrome View
Cantu Syndrome View
Chitayat Syndrome (ERF Variant) View
CTNNB1 Syndrome View
DDX3X Syndrome View
DYRK1A And 21q22 13 Deletion Syndrome View
Floating-Harbor Syndrome View
FOXP2 Syndrome View
GATA6 View
GATAD2B View
GRIN2A Related Syndrome View
GRIN2B Related Syndrome View
HNRNPU View
IQSEC2-related Disorder View
KAT6A Syndrome View
KIF11 Associated Disorder View
KIF1A View
Kleefstra Syndrome View
Koolen-De Vries Syndrome View
MED12 Related Disorders View
MED13L View
MEF2C View
MPPH Syndrome View
MYT1L View
Norrie Disease View
PACS1 Related Syndrome View
PCGF2 Related Syndrome View
PUF60 View
PURA And 5q31 View
RHOBTB2 Syndrome View
SATB2 Syndrome View
Say-Barber-Biesecker Syndrome View
SCN2A Related Conditions View
SETD5 View
SingleGeneDisorders View
SOX11 Syndrome And 2p25 Deletion Syndrome View
SOX5 Syndrome Lamb Shaffer Syndrome 12p12 Deletions View
SOX5 syndrome Lamb Shaffer syndrome 12p12 deletions French View
STXBP1 Disorders View
SYNGAP1 Syndrome View
TBCK Syndrome View
WAC Syndrome (DeSanto-Shinawi Syndrome) View
Copyright © 2020 Unique
Site editor Beverly Searle BSc(Hons) PhD CBiol MRSB
Rare Chromosome Disorder Support Group. Registered charity no. 1110661
Designed by Caravan
Clinical photography provided by St George's University Hospital
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