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

Below you will find our free Information Guides to specific chromosome and gene disorders, as well as guides translated into various languages.

Please note that we support all rare chromosome and gene disorders associated with developmental delay and we do not have guides for all the conditions we support or have members with. If your or your child’s condition is not listed please contact us directly (help@rarechromo.org) to check if we have any members registered with that condition. We are a very small team but we aim to produce guides to as many conditions as possible, so please check back regularly as new and updated guides are added.

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.  Please note, we are a small charity with limited funding, and so are dependent on clinicians volunteering to help us write, verify, update and translate our guides. NB, please check the date of publication of translated guides since the most recent update might be waiting for a volunteer clinician to translate it from English.

To read how we research and produce the guides, please click here. To see our Unique Glossary of genetic/genomic terms, 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 2nd October 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
1q23.3microdeletion View
1q4 deletions from 1q42 and beyond View
GATAD2B-associated neurodevelopmental disorder (GAND) GATAD2B syndrome View
MPPH Syndrome View
Supernumerary Ring Chromosome 1 View
Urofacial syndrome (Ochoa syndrome) 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 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 syndrome (MYT1L variants and 2p25.3 deletions) View
Ring 2 View
SATB2 Syndrome (Glass syndrome) View
SCN2A Related Conditions View
SOX11 Syndrome And 2p25.2 Deletions 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
SETD2 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 (4p16.3 deletions) 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
5q Duplications View
5q14 duplications View
5q14.3 Deletions View
5q35 Duplications View
BBSOAS (NR2F1) View
MEF2C Haploinsufficiency Syndrome 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
TAB2-related 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
CDK13-related disorder 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-related developmental disorder (Verheij syndrome) 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 Duplications View
9p24 Deletions View
9q Deletions Including 9q33 View
9q34 Duplication Syndrome View
Au-Kline syndrome (HNRNPK LOF variants and 9q21.32 microdeletions) 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
10q25 And 10q26 Deletions View
Deletions between 10q22 and 10q24 View
KIF11 Associated Disorder View
Say-Barber-Biesecker Syndrome View
Urofacial syndrome (Ochoa syndrome) View
WAC Syndrome (DeSanto-Shinawi Syndrome) View
ZMYND11 related syndromic intellectual disability View

Chromosome 11

11 22 Translocation View
11q Deletion Disorder Jacobsen Syndrome View
Emanuel Syndrome View
PACS1 related syndrome View
Wiedemann-Steiner Syndrome (WSS) KMT2A View

Chromosome 12

12p Duplications View
12q Deletions View
12q14 Microdeletions View
Cantu Syndrome View
GRIN2B-related neurodevelopmental disorder View
Lamb Shaffer Syndrome SOX5-related syndrome 12p12 deletions View
MED13L View
MPPH Syndrome View
Pallister-Killian Syndrome View
TUBA1A - associated tubulinopathy 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 between 15q15 and 15q22 View
15q Duplications View
15q11.2 Microdeletions View
15q11.2 Microduplications View
15q11q13 Duplications View
15q13.3 Microdeletion Syndrome View
15q13.3 Microduplications View
15q14 deletions View
15q24 Microdeletion Syndrome View
15q25 deletions View
15q26 Deletions View
Idic(15) View
Ring 15 View

Chromosome 16

16p Duplications View
16p Proximal Deletions View
16p11.2 Microdeletions View
16p11.2 Microduplications 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
CIMDAG syndrome (VPS4A variants) View
Floating-Harbor syndrome View
TRAF7-related neurodevelopmental disorder 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
Ring chromosome 17 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
CNOT3-related disorder View
Malan syndrome (NFIX-related disorder) 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 easy read View
22q11.2 Deletion 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

CASK-related disorders View
DDX3X Syndrome View
Disclosing_about_XXX_for_girls View
Disclosing_about_XXX_for_parents View
HNRNPH2-NDD View
IQSEC2-related Disorder View
MED12 Related Disorders View
NAA10-related disorder Arg83Cys View
Norrie Disease View
Pentasomy_X View
Tetrasomy_X View
Triple_X_syndrome Trisomy_X View
X Chromosome Deletions Duplications and Single Gene Disorders 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
Interpreting genetic test results View
Inversions View
Mosaicism View
Planning Your Next Child View
Prenatal genetic testing and diagnosis View
Robertsonian Translocations View
Single Gene Disorders - Autosomal Dominant Inheritance View
Single Gene Disorders - Autosomal Recessive Inheritance View
Small Supernumerary Marker Chromosomes (sSMCs) View
SNP Array View
Talking to Children and Young People about Balanced Translocations View
Triploid Pregnancies View
Triploidy View
Unbalanced Translocations View
Uniparental Disomy UPD View
Unique Guide Production View
Variable Expressivity Reduced Penetrance 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
Trisomy 9 mosaicism Arabic View

Chinese (Mandarin)

17q12 microdeletions Chinese View
1p36 Deletion Chinese View
2p15p16.1 microdeletion syndrome Chinese View
2q33.1 deletions and other deletions between 2q31 and 2q33 Chinese View
3p Duplications Chinese View
3q13 deletions and microdeletions Chinese View
3q29 deletions and microdeletions Chinese View
3q29 Duplications and Microduplications Chinese View
4q deletions between 4q21 and 4q22 Chinese View
BWCFF Baraitser-Winter Cerebrofrontofacial Syndrome Chinese View
CTNNB1 syndrome Simplified Chinese View
Deletions and microdeletions Simplifed Chinese View
Duplications and microduplications Simplified Chinese View
FISH Simplified Chinese View
SNP Array Simplified Chinese FTNW.pdf View
Triple X syndrome or Trisomy X (Simplified Chinese) View
Uniparental disomy UPD Simplified Chinese View

Chinese (Traditional)

CTNNB1 syndrome (Traditional Chinese) View
Deletions and microdeletions Traditional Chinese View
Duplications and microduplications Traditional Chinese View
FISH Traditional Chinese View
SNP Array Traditional Chinese View
Triple X syndrome or Trisomy X (Traditional Chinese) View
Uniparental disomy UPD Traditional 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
8p invertierte Duplikation & Deletion German View
9 Trisomie 9 Mosaik German View
9p Duplikationen Auf 9p German View
After Diagnosis What Next overseas edition German View
Array CGH German View
Deletionen Und Mikrodeletionen German View
Duplikationen Und Mikroduplikationen German View
FOXP2 syndrome 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 View
TBR1 Gen bedingte Erkrankung German 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 Microdeleciones Spanish View
16p11.2 microduplications 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 distal deletion syndrome Spanish View
22q11.2 Microduplicaciones Spanish View
22q13 deletions Phelan-McDermid syndrome 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
BRPF1 related disorder Spanish View
Cromosoma 13 En Anillo Spanish View
DDX3X syndrome Spanish View
Deleciones Y Microdeleciones Spanish View
Disorders Of STXBP1 Spanish View
Duplicaciones And Microduplicaciones Spanish View
Duplicaciones Xq28 Spanish View
DYRK1A y sindrome de delecion 21q22.13 Spanish View
Emanuel Syndrome Spanish View
Floating-Harbor Syndrome Spanish View
FOXP2 syndrome Spanish View
Hibridacion Genomica Comparada Por Microarray Microchip Array Chip De CGH Spanish View
HUWE1-related ID Spanish View
Idic 15 Spanish View
Inverted duplication & deletion of 8p Spanish View
NONO-associated X-linked ID syndrome Spanish View
PCDH19-related epilepsy Spanish View
Ring 18 Spanish View
SETD5 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
TBCK syndrome Spanish View
Tetrasomia 9p SPANISH View
Translocaciones Equilibradas Spanish View
Trastorno asociado a IQSEC2 Spanish View
Trastorno relacionado con TBR1 Spanish View
Triple_X_Spanish View
Trisomia 8 En Mosaico Spanish View
Xp11.2 duplications Spanish View
XXXXY Syndrome Spanish View
XXXY Syndrome Spanish View
XYY syndrome Spanish View

Francais

10q11.22q11.23 deletions et microdeletions French View
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
15q11.2 microdeletions French View
15q11q13 Duplications French View
15q14 deletions French View
15q25 deletions French View
16p11.2 microdeletions French View
16p11.2 microduplications French View
16p12.2 deletions French View
16p13.11 microdeletions French View
16p13.11 microduplications French View
17p Duplications French View
17q12 microdeletions French View
17q12 microduplications French View
18 Chromosome 18 En Anneau French View
18q deletions 18q de 18q11.2 a 18q21.2 French View
18q deletions from 18q21 and Beyond View
19p13.13 microdeletions French View
19p13.3 microdeletions French View
1p36 Syndrome De La Deletion 1p36 French View
1q21.1 microdeletions 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
22q11.2 microduplications French View
22q13 deletions Phelan-McDermid syndrome French View
2q13 Microdeletions French View
2q13 microduplications 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
5q14 duplications French View
5q22 Deletions Incluant La Region 5q22 French View
5q35 duplications French View
6p Deletions French View
6q Deletions 6q De 6q26 A 6q27 Francais View
7q11.23 Syndrome Duplicationnel 7q11.23 French View
7q21.11 microdeletions French View
7q36 Deletions French View
8 Trisomie 8 En Mosaique French View
8p Les Duplications 8p French View
8p23 Deletions French View
8q Duplications French View
9 Trisomie 9 En Mosaique View
9p coexisting duplication and deletion French View
9p Deletions French View
9p duplication syndrome French View
BOS Syndrome Fench View
Chromosome X Délétions, Duplications et Affections Monogéniques French View
CTNNB1 syndrome French View
DDX3X Syndrome French View
Délétions 4q Depuis 4q31 Et Au Delà View
Deletions and microdeletions French View
Duplication en 16p View
Duplications 7q Entre 7q21 Et 7q36 French View
Duplications and microduplications French View
Duplications of 2q French View
FOXP2 syndrome French View
Hybridation Genomique Comparative Sur Puces (puces A ADN) French View
Idic(15) French View
Inactivation de l'X French View
Insertions Chromosomique Equilibree French View
Inverted duplication & deletion of 8p FRENCH View
Isochromosome 18p French View
PACS1 related syndrome French View
Pentasomie_X View
Ring 17 French View
SOX11 syndrome and 2p25 deletions French View
SOX5 syndrome Lamb Shaffer syndrome 12p12 deletions French View
Syndrome d'Emanuel French View
Syndrome De Koolen-de Vries French View
TBR1 Syndrome lie a TBR1 French View
Tetrasomie_X View
Translocations Equilibree French View
Translocations Robertsoniennes French View
Triploidie French View
Trisomy 5p Inverted Duplication Deletion Of 5p FRENCH View
Uniparental Disomy 14 French View
Xq28 duplications French View
XXXXY_syndrome_French View
XXXY_syndrome_French View
XXYY_French View

Georgian

15q11q13 duplications Georgian View
1p36 deletion Georgian View
21q deletions Georgian View
Alazami syndrome Georgian View
ANKRD11 and KBG syndrome Georgian View
ARID1B syndrome Georgian View
CACNA1A-related disorders Georgian View
CACNA1C Timothy syndrome Georgian View
Cantu syndrome Georgian View
Floating-Harbor syndrome Georgian View
FOXP2 syndrome Georgian View
GATA6 syndrome Georgian View
GRIN2A related syndrome Georgian View
HNRNPU Georgian View
HUWE1-related ID Georgian View
KAT6A syndrome Georgian View
MED13L syndrome Georgian View
MEF2C haploinsufficiency syndrome Georgian View
PACS1-related syndrome Georgian View
Pallister-Killian syndrome Georgian View
Pentasomy X Georgian View
Ring 18 Georgian View
Ring 22 Georgian View
SATB2 syndrome (Glass syndrome) Georgian View
SCN2A related conditions Georgian View
SETD5 Georgian View
STXBP1 disorders Georgian View
SYNGAP1 syndrome Georgian View
Tetrasomy X Georgian View
Trisomy 8 Mosaicism Georgian View
Trisomy 9 mosaicism Georgian View
Uniparental Disomy 14 Georgian View
Uniparental disomy UPD Georgian View
XXXXY syndrome Georgian View
XXYY syndrome Georgian View
XYY Living with XYY Georgian View
XYYY syndrome Georgian View

Greek

Array CGH Greek View
Balanced Translocations Greek View
Deletions and microdeletions Greek View
Duplications and microduplications Greek View
Inversions Greek View
XYY Greek View

Italiano

15q11q13 duplicazioni Interstiziali Italian View
16p11.2 microduplications Italian View
18p La Delezione Del Cromosoma 18p Italian View
18q Delezioni Distali Del Cromosoma Italian View
1q21.1 microduplications Italian View
22q13 deletions Phelan-McDermid syndrome Italian View
After Diagnosis What Happens Next overseas edition 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
Duplicazione invertita e delezione di 8p View
FOXP2 syndrome Italian View
Ibridazione Genomica Comparativa Italian View
Idic15 Italian View
La Sindrome Di Bohring-Opitz (BOS) View
PCDH19-related epilepsy Italian View
Ring 18 Italian View
Xq28 duplications Italian View
XYY Italian View

Korean

22q11.2 deletion syndrome (Velo-Cardio-Facial syndrome) Korean View
2p16.3 (NRXN1) deletions Korean View
ANKRD11 And KBG Syndrome Korean View

Lithuanian

22q11.2 delecijos sindromas (Velo-Kardio-Facialinis Sindromas) Lithuanian View
CACNA1C Timothy syndrome Russian View

Malay

Deletions and microdeletions Malay 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
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 duplication syndrome 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
FOXP2 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
Phelan-McDermid syndroom: 22q13 deleties 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
7q11.23 duplication syndrome Polish View
Array CGH Polish View
FOXP2 syndrome Polish View
Inverted duplication & deletion of 8p Polish View
Translokacje Zrownowazone Polish View

Portugues

15q13.3 microduplicacoes Portuguese View
16p11.2 microduplications Portuguese View
1q21.1 microduplications Portuguese View
1q4 deletions Portuguese View
22q11.2 deletion syndrome (Velo-Cardio-Facial Syndrome) Portuguese View
22q13 deletions Phelan McDermid syndrome Portuguese View
2q23.1 Sindroma De Microdelecao Portuguese View
7q11.23 duplication syndrome Portuguese View
8p Inverted Duplication Deletion Portuguese View
9q34 duplication syndrome Portuguese View
CACNA1A-related disorders Portuguese View
DDX3X sindrome Portugese View
Deletions and microdeletions Portuguese View
Duplications and microduplications Portuguese View
FOXP2 syndrome Portuguese View
Inativacao do X Portuguese View
Xq28 duplications Portuguese View

Romana

Hibridizarea Genomica Comparativa Array CGH Romanian View

Russian

10p Proximal Deletions From 10p11 And 10p12 Russian View
10q Duplications Russian View
10q11.22q11.23 Deletions and Microdeletions Russian View
10q25 and 10q26 Deletions Russian View
11q Deletion Disorder Jacobsen Syndrome Russian View
12p Duplications Russian View
13q Deletions Including RB1 Russian View
13q Deletions Various Russian View
13q Distal Interstitial Deletions Russian View
14q distal duplications Russian View
14q11.2 Deletions Russian View
14q12 Deletions Russian View
14q13 Deletions Russian View
15q11.2 microduplications Russian View
15q11q13 Duplications Russian View
15q14 deletions Russian View
15q15q22 deletions Russian View
15q25 deletions Russian View
16p Duplications Of 16p Russian View
16p11.2 microduplications Russian View
16p12.2 deletions Russian View
16p13.11 microduplications Russian View
16p13.3 Duplications And Microduplications Russian View
17p Duplications Russian View
18p deletions Russian View
18q Deletions From 18q21 And Beyond Russian View
19p13.12 microdeletions Russian View
19p13.13 microdeletions Russian View
19p13.2 microdeletions Russian View
19p13.3 microdeletions Russian View
1p36 Deletions Russian View
1q4 Deletions Russian View
20q13.33 deletions Russian View
22q11.2 Deletion Syndrome (Velo-Cardio-Facial Syndrome) Russian View
22q13 Deletions Phelan McDermid Syndrome Russian View
2p16.3 (NRXN1) deletions Russian View
2q13 microdeletions Russian View
2q13 microduplications Russian View
2q23.1 microdeletion 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
5q duplications Russian View
5q14 Duplications Russian View
5q14.3 deletions Russian View
5q35 duplications Russian View
6p Duplications Russian View
6q Deletions 6q13q14 Russian View
7q21.11 microdeletions Russian View
7q32q34 Deletions Russian View
7q36 Deletions Russian View
8p Duplications Russian View
8p interstitial deletions including 8p12 Russian View
8p Inverted duplication deletion Russian View
8p23 Deletions Russian View
8q Duplications Russian View
9p Coexisting Duplication and Deletion Russian View
9p24 Deletions Russian View
9q deletions including 9q33 Russian View
Alazami Syndrome Russian View
ANKRD11 And KBG Syndrome Russian View
ARID1B Syndrome Russian View
ATRX-X Russian View
Au-Kline syndrome (HNRNPK LOF variants and 9q21.32 microdeletions) Russian View
Bohring-Opitz syndrome (BOS) Russian View
BRPF1-related disorder Russian View
BWCFF Baraitser-Winter Cerebrofrontofacial Syndrome Russian View
CACNA1A-related disorders Russian View
CACNA1C Timothy syndrome Russian View
Cantu syndrome Russian View
CASK related disorders Russian View
Cat Eye syndrome Russian View
Chitayat syndrome (ERF variant) Russian View
CLTC-related ID Russian View
CTNNB1 Syndrome Russian View
DDX3X syndrome Russian View
Deletions and microdeletions Russian View
Deletions Including The End Of 13q Russian View
Disclosing about XXX for parents Russian View
Disclosing about XYY for parents Russian View
Disclosing_about_XXX_for_girls_RUSSIAN View
Disclosing_about_XYY_for_boys RUSSIAN View
Duplications and microduplications Russian View
Duplications of 2p Russian View
Duplications of 9p Russian View
DYRK1A and 21q22.13 deletion syndrome Russian View
Emanuel Syndrome Russian View
FOXP1 syndrome Russian View
FOXP2 Syndrome Russian View
GATA6 Russian View
GATAD2B Russian View
GRIN2A Related Syndrome Russian View
GRIN2B related syndrome Russian View
HNRNPU-related disorder Russian View
HUWE1-related ID Russian View
Idic 15 Russian View
IQSEC2-related disorder Russian View
Isochromosome 18p Russian View
KAT6A syndrome 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
MED13L syndrome Russian View
MEF2C Russian View
MPPH syndrome Russian View
MYT1L syndrome 2p25.3 Deletions Russian View
NAA10-related disorder Arg83Cys Russian View
NONO-associated X-linked ID syndrome Russian View
Norrie Disease Russian View
PACS1 related syndrome (Schuurs-Hoeijmakers syndrome) Russian View
Pallister-Killian syndrome Russian View
PCDH19-related epilepsy View
PCGF2 related syndrome Russian View
PUF60 related syndrome Russian View
PURA And 5q31 Russian View
RHOBTB2 syndrome Russian View
Ring 13 Russian View
Ring 18 Russian View
Ring 21 Russian View
Ring chromosome 17 Russian View
SATB2 syndrome (Glass syndrome) Russian View
Say-Barber-Biesecker Syndrome Russian View
SETD5 and 3p25 deletion syndrome Russian View
SIN3A Witteveen-Kolk syndrome WITKOS Russian View
SLC12A2 syndrome and SLC12A2-related deafness Russian View
SNP Array Russian View
SOX11 syndrome and 2p25.2 deletions Russian View
SOX5 syndrome Lamb-Shaffer syndrome 12p12 deletions Russian View
STXBP1 disorders Russian View
SYNGAP1 syndrome Russian View
TBCK syndrome Russian View
TBR1 related disorder Russian View
Tetrasomy 9p Russian View
Tetrasomy_X_Russian View
Therapies Russian View
Triple_X_Syndrome_Trisomy_X_Russian View
Trisomy 14 mosaicism Russian View
TUBA1A related tubulinopathy Russian View
Unbalanced Translocations Russian View
Uniparental Disomy UPD Russian View
USP7-related disorder Russian View
WAC syndrome (DeSanto-Shinawi syndrome) Russian View
WHS Russian View
X chromosome deletions duplications and single gene disorders Russian View
X Inactivation Russian View
Xp11.2 duplications Russian View
XYY Russian View
ZMYND11-related syndromic intellectual disability Russian View

Swedish

10q25 and 10q26 deletions Swedish View
Array CGH Swedish View
Deletions and microdeletions Swedish View
DNA sequencing (whole genome and exome) Swedish View
Duplications and microduplications Swedish View
Planning your next child Swedish View
Triple X syndrome Trisomy X Swedish View
Unbalanced Translocations Swedish View
Uniparental disomy UPD Swedish View
Variable expressivity & reduced penetrance Swedish View
X inactivation Swedish View

Turkish

ZMYND11 related syndromic intellectual disability View

Ukrainian

ARID1B syndrome Ukrainian View

Vietnamese

13q deletions including RB1 Vietnamese 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
ATR-X View
Au-Kline syndrome (HNRNPK LOF variants and 9q21.32 microdeletions) View
Bainbridge-Roper Syndrome ASXL3 View
BBSOAS (NR2F1) View
Bohring-Opitz Syndrome (BOS) View
BRPF1-related disorder View
BWCFF Baraitser-Winter Cerebrofrontofacial Syndrome View
CACNA1A-related disorders View
CACNA1C Timothy syndrome View
Cantu Syndrome View
CASK-related disorders View
CDK13-related disorder View
Chitayat Syndrome (ERF Variant) View
CIMDAG syndrome (VPS4A variants) View
CLTC-related ID View
CNOT3-related disorder View
CTNNB1 syndrome View
DDX3X Syndrome View
DYRK1A and 21q22.13 deletion syndrome View
Floating-Harbor Syndrome View
FOXP1 syndrome View
FOXP2 Syndrome View
GATA6 View
GATAD2B-associated neurodevelopmental disorder (GAND) GATAD2B syndrome View
GRIN2A related syndrome View
GRIN2B-related neurodevelopmental disorder View
HNRNPH2-NDD View
HNRNPU-related disorder View
HUWE1-related ID View
IQSEC2-related Disorder View
KAT6A Syndrome View
KIF11 Associated Disorder View
KIF1A View
Kleefstra Syndrome View
Koolen-De Vries Syndrome View
Lamb Shaffer Syndrome SOX5-related syndrome 12p12 deletions View
Li-Ghorbani-Weisz-Hubshman syndrome LIGOWS KAT8 variants View
Malan syndrome (NFIX-related disorder) View
MED12 Related Disorders View
MED13L View
MEF2C haploinsufficiency syndrome View
MPPH Syndrome View
MYT1L syndrome (MYT1L variants and 2p25.3 deletions) View
NAA10-related disorder Arg83Cys View
NONO-associated X-linked ID syndrome View
Norrie Disease View
PACS1 Related Syndrome View
PCDH19-related epilepsy View
PCGF2 Related Syndrome View
PUF60-related developmental disorder (Verheij syndrome) View
PURA And 5q31 View
RHOBTB2 Syndrome View
SATB2 Syndrome (Glass syndrome) View
Say-Barber-Biesecker Syndrome View
SCN2A Related Conditions View
SETD2 View
SETD5 View
SIN3A Witteveen-Kolk syndrome WITKOS View
Single Gene Disorders - Autosomal Dominant Inheritance View
Single Gene Disorders - Autosomal Recessive Inheritance View
SLC12A2 syndrome and SLC12A2-related deafness View
SOX11 Syndrome And 2p25.2 Deletions View
SOX5 Syndrome Lamb Shaffer Syndrome 12p12 Deletions View
STXBP1 Disorders View
SYNGAP1 Syndrome View
TAB2-related syndrome View
TBCK Syndrome View
TBR1 related disorder View
TRAF7-related neurodevelopmental disorder View
TUBA1A - associated tubulinopathy View
Urofacial syndrome (Ochoa syndrome) View
USP7 related disorder View
WAC Syndrome (DeSanto-Shinawi Syndrome) View
Wiedemann-Steiner Syndrome (WSS) KMT2A View
X Chromosome Deletions Duplications and Single Gene Disorders View
ZMYND11 related syndromic intellectual disability View
My Chromosome Story Booklets
View

Chromosome Story Booklets

10q11.22q11.23 Deletions and Microdeletions My Chromosome Story View
10q11.22q11.23 Deletions and Microdeletions My Chromosome Story French View
10q11.22q11.23 Deletions and Microdeletions My Chromosome Story German View
15q11.2 Microdeletions My Chromosome Story View
15q11q13 Duplications My Chromosome Story View
15q11q13 duplications My Chromosome Story French View
15q13.1q13.2 Deletions My Chromosome Story View
15q13.1q13.2 Deletions My Chromosome Story French View
15q13.1q13.2 deletions My Chromosome Story German View
15q13.3 microdeletions My Chromosome Story View
15q13.3 microdeletions My Chromosome Story French View
15q13.3 microdeletions My Chromosome Story German View
16p11.2 microdeletions My Chromosome Story View
16p11.2 microdeletions My Chromosome Story French View
16p11.2 microdeletions My Chromosome Story German View
16p11.2 microduplications My Chromosome Story View
16p11.2 microduplications My Chromosome Story French View
16p13.11 microduplications My Chromosome Story View
1q21.1 microduplications My Chromosome Story View
1q21.1 microduplications My Chromosome Story French View
21q22.13 deletions My Chromosome Story View
2q13 Microdeletions My Chromosome Story View
2q13 Microdeletions My Chromosome Story French View
2q13 Microdeletions My Chromosome Story German View
2q37 Deletion Syndrome My Chromosome Story View
2q37 deletion syndrome My Chromosome Story French View
2q37 Deletions syndrome My Chromosome Story German View
3q29 Microdeletions My Chromosome Story View
9p Duplication Syndrome My Chromosome Story View
9p duplication syndrome My Chromosome Story French View
BBSOAS My Gene Story View
Cat Eye syndrome My Chromosome Story View
CDK13-related disorder My Chromosome Story View
Deletions and microdeletions My Chromosome Story View
Deletions and microdeletions My Chromosome Story German View
Duplications and microduplications My Chromosome Story View
DYRK1A syndrome My Chromosome Story View
Malan syndrome My Gene Story View
Single Gene Disorder My Chromosome Story View
Wiedemann-Steiner syndrome (WSS) My Gene Story View
XXXXY syndrome My Chromosome Story View
Easy Read Guides
View

Easy Read Guides

16p13.11 microduplications Easy Read View
21q22.13 Deletions Easy Read View
22q11 deletion syndrome easy read View
2p16.3 (NRXN1) deletions Easy Read View
BBSOAS Easy Read View
CDK13-related disorder Easy Read View
Deletion and Microdeletions Easy Read View
Duplications and Microduplications Easy Read View
DYRK1A Syndrome Easy Read View
Gene Variants Easy Read View
Wiedemann-Steiner syndrome WSS Easy Read View
Practical Guides
View

English

A Clinical Genetics Appointment View
Adoption Guide View
After Diagnosis, What Next? Non-UK edition View
After Diagnosis, What Next? UK edition View
Bereavement and loss View
Carers Wellbeing View
Challenging Behaviour View
Communication View
Education View
Feeding View
Further Education, Training And Work View
Grants And Funding View
Hearing loss View
Holidays Guide View
How to get legal help and advocacy View
Looking After Your Childs Teeth View
Mental Health and Wellbeing View
Planning Your Next Child View
Prenatal genetic testing and diagnosis View
Puberty View
Self-isolation guide to helpful resources View
Sleep View
Sports Leisure Days Out View
Supporting Siblings of Children with a Rare Genetic Condition View
Teeth Common Concerns View
Therapies View
Toilet Training And Continence View
Transition (from child to adult services) View
Travel Insurance View
Uniquely different View
Young Carers View
Videos and Animations
View

Videos and animations

Animation: What is an arrayCGH? View
Animation: What is DNA sequencing? View
The G-Word Podcast: Shining a Light on Rare Conditions View
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