Understanding Rare
Chromosome and Gene Disorders

Rare Chromosome & Gene Disorder Guides

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Please click on the relevant title in the table below to download the Unique guide to the disorder in which you are interested. Chromosome guides are listed under the relevant chromosome number. Guides to some autosomal dominant single gene disorders can be found on a separate page. 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.

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(Page last updated 2nd May 2018)

Chromosome Disorder Guides - English
View

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
2q13 Microdeletions Web Version Print Version
2q13 Microduplications 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
MYT1L Quick Read
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

3p Duplications Web Version Print Version
3p25 Deletions Web Version Print Version
3p26 Deletions Web Version Print Version
3q Duplications Web Version Print Version
3q13 Deletions And Microdeletions Web Version Print Version
3q29 Duplications And Microduplications Web Version Print Version
3q29 Deletions And Microdeletions 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 Inverted Duplication And Deletion Of 5p Web Version Print Version
5p Trisomy 5p Microduplications Of 5p13 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
Trisomy 5p Duplications Of 5p15 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
7q21.11 Microdeletions Quick Read
7q32q34 Deletions Web Version Print Version
7q36 Deletions Web Version Print Version Quick Read
FOXP2 Syndrome 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
KAT6A Syndrome Web Version Print Version
PUF60 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
9q Deletions Including 9q33 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
Cantu Syndrome Web Version Print Version
Duplications Of 12p 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
15q11q13 Duplications 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 Microduplications Web Version Print Version
16p11.2 Microdeletions Web Version Print Version
16p12.2 Deletions Web Version Print Version
16p13 Deletions Web Version Print Version
16p13.11 Microdeletions Web Version Print Version
16p13.11 Microduplications Web Version Print Version Quick Read
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
GRIN2A Related Syndrome Quick Read
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
GATA6 Web Version Print Version
Isochromosome 18p 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
20q13.33 Deletions Web Version Print Version
ADNP Related Syndrome Web Version Print Version
Bohring-Opitz Syndrome (BOS) 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
A Clinical Genetics Appointment 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
Chromosome Disorder Guides - Translations
View

Arabic

16p11.2 Microdeletions Arabic Web Version Print Version
Array CGH Arabic Quick Read

Dansk

16p13.11 Microdeleties Dutch Web Version Print Version
Mikroarray-baseret Komparativ Genomisk Hybridisering Danish Quick Read
Triple_X_Danish Web Version Print Version

Deutsch

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

Espanol

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

Francais

10q26 Deletions French Quick Read
11 La Deletion 11q Terminale (syndrome De Jacobsen) Web Version Print Version
12 Le Syndrome De Pallister Killian French Quick Read
13 Chromosme 13 En Anneau French Quick Read
13q Deletions De La Region 13q Terminale French Web Version Print Version
14 Chromosome 14 En Anneau French Quick Read
14 Disomie Uniparentale 14 French Quick Read
15 Chromosome 15 En Anneau French Quick Read
15 Idic 15 French Quick Read
15q Duplications French Web Version Print Version
17p Duplications French Quick Read
17q21.31 Microdeletions French Web Version Print Version
18 Chromosome 18 En Anneau French Quick Read
1p36 Syndrome De La Deletion 1p36 French Quick Read
1q21.1microduplications Web Version Print Version
1q4 Deletions French Quick Read
2 Chromosome 2 En Anneau French Quick Read
21 Chromosome 21 En Anneau French Quick Read
21q Deletions French Quick Read
22 Chromosome 22 En Anneau French Web Version Print Version
22q13 Deletions Syndrome De Phelan McDermid French Quick Read
2q32 Deletions Et MicroDeletions French Web Version
2q37 Deletions French Quick Read
3p25 Deletions French Quick Read
3q29 Deletions Et Microdeletions French Web Version Print Version
3qDuplications 3q French Web Version Print Version
4p Duplications French Quick Read
5q22 Deletions Incluant La Region 5q22 French Quick Read
6p Deletions French Quick Read
6q Deletions 6q De 6q26 A 6q27 Francais Web Version Print Version
7q Deletions French Quick Read
7q11.23 Syndrome Duplicationnel 7q11.23 French Web Version Print Version
8 Trisomie 8 En Mosaique French Quick Read
8p Inv Dup Del 8p French Quick Read
8p Les Duplications 8p French Quick Read
8p23 Deletions French Quick Read
9 Trisomie 9 En Mosaique Quick Read
9p Deletions French Quick Read
DDX3X Syndrome French Web Version Print Version
Délétions 4q Depuis 4q31 Et Au Delà Web Version Print Version
Duplications 7q Entre 7q21 Et 7q36 French Quick Read
Hybridation Genomique Comparative Sur Puces (puces A ADN) French Quick Read
Insertions Chromosomique Equilibree French Quick Read
Isochromosome 18p French Web Version Print Version
Pentasomie_X Quick Read
Tetrasomie_X Web Version Print Version
Translocations Robertsoniennes French Web Version Print Version
XXXXY_syndrome_French Web Version Print Version Quick Read
XXXY_syndrome_French Web Version Print Version
XXYY_French Quick Read

Greek

Array CGH Greek Quick Read
Balanced Translocations Greek Web Version Print Version
XYY Greek Web Version Print Version

Italiano

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

Nederlands

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

Polski

16p11.2 Mikroduplikacje 16p11.2 Polish Web Version Print Version
18 Delecje 18p Polish Web Version Print Version
1p36 Zespol Delecji Polish Web Version Print Version
1q21.1 Mikrodelecji Polish Web Version Print Version
48XXXY Zespol Polish Web Version Print Version
49XXXXY Polish Web Version Print Version
Array CGH Polish Quick Read
Translokacje Zrownowazone Polish Web Version Print Version

Portugues

2q23.1 Sindroma De Microdelecao Portuguese Web Version Print Version

Romana

Hibridizarea Genomica Comparativa Array CGH Romanian Quick Read

Russian

10q Duplications Russian Web Version Print Version
13q Distal Interstitial Deletions Russian Web Version Print Version
17p Duplications Russian Web Version Print Version
18q Deletions From 18q21 And Beyond Russian Web Version Print Version
1p36 Deletions Russian Web Version Print Version
22q13 Deletions Phelan McDermid Syndrome Russian Web Version Print Version
2q37 Deletion Syndrome Russian Web Version Print Version
2q37 Deletions Adults And Adolescents Russian Web Version Print Version
3p26 Deletions Russian Web Version Print Version
4p 8p Translocation Russian Web Version Print Version
4p Duplications Russian Web Version Print Version
6p Duplications Russian Web Version Print Version
6q Deletions 6q13q14 Russian Web Version Print Version
7q32q34 Deletions Russian Web Version Print Version
7q36 Deletions Russian Web Version Print Version
8p23 Deletions Russian Web Version Print Version
8q Duplications Russian Web Version Print Version
9p24 Deletions Russian Web Version Print Version
Deletions Including The End Of 13q Russian Web Version Print Version
Idic 15 Russian Web Version Print Version
Kleefstra Syndrome Russian Web Version Print Version
Kleefstra Syndrome And Mental Health Russian Web Version Print Version
Koolen-De-Vries Syndrome Russian Web Version Print Version
Ring 18 Russian Web Version Print Version
Ring 21 Russian Web Version Print Version
Tetrasomy_X_Russian Web Version Print Version
Triple_X_Syndrome_Trisomy_X_Russian Web Version Print Version
Single Gene Disorder Guides
View

Single Gene Disorder Guides

ADNP Related Syndrome Web Version Print Version
ANKRD11 And KBG Syndrome Quick Read
ARID1B Syndrome Quick Read
ATRX-X Quick Read
Alazami Syndrome Quick Read
BWCFF Baraitser-Winter Cerebrofrontofacial Syndrome Quick Read
Bohring-Opitz Syndrome (BOS) Web Version Print Version
CTNNB1 Syndrome Quick Read
Cantu Syndrome Web Version Print Version
DDX3X Syndrome Web Version Print Version
DYRK1A And 21q22 13 Deletion Syndrome Web Version Print Version
FOXP2 Syndrome Quick Read
Floating-Harbor Syndrome Web Version Print Version
GATA6 Web Version Print Version
GATAD2B Quick Read
GRIN2A Related Syndrome Quick Read
GRIN2B Related Syndrome Web Version Print Version
KAT6A Syndrome Web Version Print Version
KIF11 Associated Disorder Quick Read
MED12 Related Disorders Web Version Print Version
MEF2C Trifold Quick Read
MPPH Syndrome Quick Read
MYT1L Quick Read
PACS1 Related Syndrome Web Version Print Version
PUF60 Quick Read
PURA And 5q31 Web Version Print Version
SATB2 Syndrome Quick Read
SCN2A Related Conditions Web Version Print Version
SETD5 Quick Read
SOX11 Syndrome And 2p25 Deletion Syndrome Quick Read
STXBP1 Disorders Quick Read
SYNGAP1 Syndrome Web Version Print Version
Say-Barber-Biesecker Syndrome Quick Read