MCID: CHR659
MIFTS: 40

Chromosome 22q11.2 Duplication Syndrome

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chromosome 22q11.2 Duplication Syndrome

MalaCards integrated aliases for Chromosome 22q11.2 Duplication Syndrome:

Name: Chromosome 22q11.2 Duplication Syndrome 57 53 25
Chromosome 22q11.2 Microduplication Syndrome 57 12 25 13 44 15 72
22q11.2 Microduplication Syndrome 12 53 59
22q11.2 Duplication Syndrome 53 29 6
22q11.2 Duplication 24 53 25
Duplication 22q11.2 12 59
Trisomy 22q11.2 12 59
Dup(22)(q11) 59

Characteristics:

Orphanet epidemiological data:

59
22q11.2 microduplication syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy;

OMIM:

57
Inheritance:
autosomal dominant
isolated cases

Miscellaneous:
highly variable phenotype, ranging from asymptomatic to severe
contiguous gene duplication syndrome


HPO:

32
chromosome 22q11.2 duplication syndrome:
Inheritance autosomal dominant inheritance sporadic


GeneReviews:

24
Penetrance In probands in whom 22q11.2 tandem duplication is identified, caution is needed in attributing the observed clinical features to this finding. duplication 22q11.2 has been observed in normal people as well as in people who were studied because they had developmental delay, intellectual disability, or other clinical features suggestive of a chromosomal abnormality....

Classifications:



External Ids:

Disease Ontology 12 DOID:0060436
OMIM 57 608363
MeSH 44 C567224
ICD10 33 Q92.3
ICD10 via Orphanet 34 Q92.3
UMLS via Orphanet 73 C2675369
Orphanet 59 ORPHA1727
MedGen 42 C2675369
UMLS 72 C2675369

Summaries for Chromosome 22q11.2 Duplication Syndrome

NIH Rare Diseases : 53 22q11.2 duplication syndrome is a condition caused by an extra copy of a small piece of chromosome 22 which contains about 30 to 40 genes. The features of this condition vary widely, even among members of the same family (intrafamilial variability). Affected individuals may have intellectual or learning disability, developmental delay, slow growth leading to short stature, and weak muscle tone (hypotonia). Many people with the condition have no apparent physical or intellectual disabilities. It is inherited in an autosomal dominant manner. While many affected people inherit the condition from a parent, others are affected due to having a new mutation that occurs for the first time. In either case, the condition can be passed on to children. Researchers are working to determine which duplicated genes may contribute to the developmental delay and other problems that sometimes affect people with this condition. The duplication is not detectable by karyotype and most cases are identified by a technique known as chromosomal microarray. Treatment depends on the symptoms in each person and includes an individualized educational program.

MalaCards based summary : Chromosome 22q11.2 Duplication Syndrome, also known as chromosome 22q11.2 microduplication syndrome, is related to velocardiofacial syndrome and digeorge syndrome. An important gene associated with Chromosome 22q11.2 Duplication Syndrome is DUP22Q11.2 (Chromosome 22q11.2 Microduplication Syndrome), and among its related pathways/superpathways are G-protein signaling_H-RAS regulation pathway and RNAi Pathway. Affiliated tissues include heart, thymus and testes, and related phenotypes are hypertelorism and intellectual disability

Genetics Home Reference : 25 22q11.2 duplication is a condition caused by an extra copy of a small piece of chromosome 22. The duplication occurs near the middle of the chromosome at a location designated q11.2. The features of this condition vary widely, even among members of the same family. Affected individuals may have developmental delay, intellectual disability, slow growth leading to short stature, and weak muscle tone (hypotonia). Many people with the duplication have no apparent physical or intellectual disabilities.

Wikipedia : 75 22q11.2 duplication syndrome is a rare genetic disorder caused by a duplication of a segment at the end... more...

More information from OMIM: 608363
GeneReviews: NBK3823

Related Diseases for Chromosome 22q11.2 Duplication Syndrome

Diseases related to Chromosome 22q11.2 Duplication Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 velocardiofacial syndrome 28.7 ZNF74 TBX1 MED15
2 digeorge syndrome 27.7 ZNF74 TBX1 MED15 LZTR1 CLTCL1
3 distal 22q11.2 microduplication syndrome 12.5
4 autism 10.3
5 autism spectrum disorder 10.2
6 cleft palate, isolated 10.2
7 palatopharyngeal incompetence 10.0
8 sturge-weber syndrome 10.0
9 teeth, supernumerary 10.0
10 tracheoesophageal fistula with or without esophageal atresia 10.0
11 immune deficiency disease 10.0
12 aural atresia, congenital 10.0
13 intraocular pressure quantitative trait locus 10.0
14 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
15 esophageal atresia 10.0
16 juvenile glaucoma 10.0
17 vacterl association 10.0
18 heart septal defect 10.0
19 atrial heart septal defect 10.0
20 hemangioma 10.0
21 ovarian cyst 10.0
22 subvalvular aortic stenosis 10.0
23 learning disability 10.0
24 weber syndrome 10.0
25 hypertelorism 10.0
26 alacrima, achalasia, and mental retardation syndrome 10.0
27 hypotonia 10.0
28 cat eye syndrome 9.9
29 laryngomalacia 9.9
30 schizophrenia 9.9
31 strabismus 9.9
32 tetralogy of fallot 9.9
33 down syndrome 9.9
34 conotruncal heart malformations 9.9
35 cryptorchidism, unilateral or bilateral 9.9
36 megalocornea 9.9
37 exstrophy of bladder 9.9
38 astigmatism 9.9
39 phelan-mcdermid syndrome 9.9
40 ventricular septal defect 3 9.9
41 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 9.9
42 brachydactyly 9.9
43 bladder exstrophy-epispadias-cloacal exstrophy complex 9.9
44 patau syndrome 9.9
45 optic disk drusen 9.9
46 ventricular septal defect 9.9
47 psychotic disorder 9.9
48 mechanical strabismus 9.9
49 pathologic nystagmus 9.9
50 microcephaly 9.9

Graphical network of the top 20 diseases related to Chromosome 22q11.2 Duplication Syndrome:



Diseases related to Chromosome 22q11.2 Duplication Syndrome

Symptoms & Phenotypes for Chromosome 22q11.2 Duplication Syndrome

Human phenotypes related to Chromosome 22q11.2 Duplication Syndrome:

59 32 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
3 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
4 neurological speech impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002167
5 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
6 delayed speech and language development 59 32 frequent (33%) Frequent (79-30%) HP:0000750
7 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
8 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
9 depressed nasal ridge 59 32 frequent (33%) Frequent (79-30%) HP:0000457
10 narrow face 59 32 frequent (33%) Frequent (79-30%) HP:0000275
11 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
12 abnormality of the pharynx 59 32 frequent (33%) Frequent (79-30%) HP:0000600
13 nasal speech 59 32 frequent (33%) Frequent (79-30%) HP:0001611
14 high forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000348
15 midface retrusion 59 32 frequent (33%) Frequent (79-30%) HP:0011800
16 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
17 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
18 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
19 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
20 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
21 smooth philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000319
22 stereotypy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000733
23 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
24 autism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000717
25 attention deficit hyperactivity disorder 59 32 occasional (7.5%) Occasional (29-5%) HP:0007018
26 growth delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001510
27 anxiety 59 32 occasional (7.5%) Occasional (29-5%) HP:0000739
28 hypoplastic left heart 59 32 occasional (7.5%) Occasional (29-5%) HP:0004383
29 abnormality of immune system physiology 59 32 occasional (7.5%) Occasional (29-5%) HP:0010978
30 obsessive-compulsive behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0000722
31 tetralogy of fallot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001636
32 interrupted aortic arch 59 32 occasional (7.5%) Occasional (29-5%) HP:0011611
33 hydronephrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000126
34 aplasia/hypoplasia of the thymus 59 32 occasional (7.5%) Occasional (29-5%) HP:0010515
35 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
36 urethral stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008661
37 wide nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0000445
38 anterior creases of earlobe 59 32 occasional (7.5%) Occasional (29-5%) HP:0009908
39 transposition of the great arteries 59 32 occasional (7.5%) Occasional (29-5%) HP:0001669
40 displacement of the urethral meatus 32 occasional (7.5%) HP:0100627
41 low-set ears 32 HP:0000369
42 high palate 32 HP:0000218
43 generalized hypotonia 32 HP:0001290
44 specific learning disability 32 HP:0001328
45 abnormality of the pinna 32 HP:0000377
46 displacement of the external urethral meatus 59 Occasional (29-5%)
47 abnormality of cardiovascular system morphology 32 HP:0030680
48 velopharyngeal insufficiency 32 HP:0000220

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures
epicanthal folds

Head And Neck Head:
microcephaly

Voice:
nasal speech

Growth Other:
growth retardation

Head And Neck Mouth:
high-arched palate

Head And Neck Nose:
broad flat nose

Head And Neck Ears:
low-set ears
dysplastic ears
thick helices

Head And Neck Face:
micrognathia

Respiratory Nasopharynx:
velopharyngeal insufficiency

Muscle Soft Tissue:
hypotonia

Neurologic Central Nervous System:
mental retardation
delayed psychomotor development
learning disabilities
speech delay

Cardiovascular Heart:
congenital cardiac malformations, variable

Clinical features from OMIM:

608363

Drugs & Therapeutics for Chromosome 22q11.2 Duplication Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 22q11.2 Duplication Syndrome

Cochrane evidence based reviews: chromosome 22q11.2 microduplication syndrome

Genetic Tests for Chromosome 22q11.2 Duplication Syndrome

Genetic tests related to Chromosome 22q11.2 Duplication Syndrome:

# Genetic test Affiliating Genes
1 22q11.2 Duplication Syndrome 29

Anatomical Context for Chromosome 22q11.2 Duplication Syndrome

MalaCards organs/tissues related to Chromosome 22q11.2 Duplication Syndrome:

41
Heart, Thymus, Testes

Publications for Chromosome 22q11.2 Duplication Syndrome

Articles related to Chromosome 22q11.2 Duplication Syndrome:

(show all 24)
# Title Authors PMID Year
1
Clinical variability of the 22q11.2 duplication syndrome. 4 8
18707033 2008
2
Microduplication 22q11.2: a benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance?--Report of two families. 4 8
18260141 2008
3
Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication. 4 8
18076674 2008
4
Microduplication and triplication of 22q11.2: a highly variable syndrome. 4 8
15800846 2005
5
Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. 4 8
14526392 2003
6
Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems. 8
21792059 2011
7
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. 8
21844811 2011
8
Over-expression of a human chromosome 22q11.2 segment including TXNRD2, COMT and ARVCF developmentally affects incentive learning and working memory in mice. 8
19617637 2009
9
Population analysis of large copy number variants and hotspots of human genetic disease. 8
19166990 2009
10
22q11.2 Duplication 71
20301749 2009
11
Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome. 8
17041934 2006
12
The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies. 8
16761289 2006
13
Incidence of microduplication 22q11.2 in patients referred for FISH testing for velo cardiofacial and DiGeorge syndromes. 8
16175191 2005
14
A common molecular basis for rearrangement disorders on chromosome 22q11. 8
10369860 1999
15
Microduplication 22q11.2: a description of the clinical, developmental and behavioral characteristics during childhood. 4
22876571 2012
16
Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. 4
18414210 2008
17
Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification. 4
18000985 2007
18
Structural variation in the human genome. 4
17360997 2007
19
1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features. 4
17250668 2007
20
A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome. 4
15099348 2004
21
Ocular findings associated with chromosome 22q11.2 duplication. 38
27108843 2016
22
Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations. 38
25118001 2015
23
22q11.2 Microduplication syndrome and epilepsy with continuous spikes and waves during sleep (CSWS). A case report and review of the literature. 38
23159380 2012
24
Tourette syndrome and klippel-feil anomaly in a child with chromosome 22q11 duplication. 38
20069037 2009

Variations for Chromosome 22q11.2 Duplication Syndrome

ClinVar genetic disease variations for Chromosome 22q11.2 Duplication Syndrome:

6 (show all 18)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 subset of 49 genes:TBX1 GRCh37/hg19 22q11.21(chr22: 18609712-21408430) copy number gain Pathogenic 22:18609712-21408430 :0-0
2 subset of 49 genes:TBX1 GRCh37/hg19 22q11.21(chr22: 18611223-21408430) copy number gain Pathogenic 22:18611223-21408430 :0-0
3 subset of 48 genes:TBX1 GRCh37/hg19 22q11.21(chr22: 18650745-21460220) copy number gain Pathogenic 22:18650745-21460220 :0-0
4 subset of 48 genes:TBX1 GRCh37/hg19 22q11.21(chr22: 18650803-21460220) copy number gain Pathogenic 22:18650803-21460220 :0-0
5 subset of 48 genes:TBX1 GRCh37/hg19 22q11.21(chr22: 18650803-21386010) copy number gain Pathogenic 22:18650803-21386010 :0-0
6 subset of 47 genes:TBX1 GRCh37/hg19 22q11.21(chr22: 18892575-21460220) copy number gain Pathogenic 22:18892575-21460220 :0-0
7 subset of 29 genes:TBX1 GRCh37/hg19 22q11.21(chr22: 18892575-20308800) copy number gain Pathogenic 22:18892575-20308800 :0-0
8 subset of 38 genes:TBX1 GRCh37/hg19 22q11.21(chr22: 18900755-21075586) copy number gain Pathogenic 22:18900755-21075586 :0-0
9 subset of 52 genes:TBX1 GRCh37/hg19 22q11.21(chr22: 18912514-21922035) copy number gain Pathogenic 22:18912514-21922035 :0-0
10 subset of 46 genes:TBX1 GRCh37/hg19 22q11.21(chr22: 18923898-21431174) copy number gain Pathogenic 22:18923898-21431174 :0-0
11 subset of 47 genes:TBX1 GRCh37/hg19 22q11.21(chr22: 18892575-21460220) copy number loss Pathogenic 22:18892575-21460220 :0-0
12 subset of 46 genes:TBX1 GRCh37/hg19 22q11.21(chr22: 18912514-21431174) copy number gain Pathogenic 22:18912514-21431174 :0-0
13 subset of 47 genes:TBX1 GRCh37/hg19 22q11.21(chr22: 18892575-21460220) copy number loss Pathogenic 22:18892575-21460220 :0-0
14 subset of 45 genes:TBX1 GRCh37/hg19 22q11.1-11.21(chr22: 17289827-20311922) copy number gain Pathogenic 22:17289827-20311922 :0-0
15 subset of 48 genes:TBX1 GRCh37/hg19 22q11.21(chr22: 18648855-21461017)x3 copy number gain Pathogenic 22:18648855-21461017 :0-0
16 subset of 45 genes:TBX1 GRCh37/hg19 22q11.21(chr22: 18937380-21459713)x3 copy number gain Pathogenic 22:18937380-21459713 :0-0
17 subset of 54 genes:TBX1 GRCh37/hg19 22q11.21(chr22: 18648855-21927646)x3 copy number gain Pathogenic 22:18648855-21927646 :0-0
18 covers 30 genes, none of which curated to show dosage sensitivity GRCh37/hg19 22q11.21(chr22: 19819477-21464764)x3 copy number gain Pathogenic 22:19819477-21464764 :0-0

Copy number variations for Chromosome 22q11.2 Duplication Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 160819 22 16300000 24300000 Duplication 22q11.2 duplication syndrome

Expression for Chromosome 22q11.2 Duplication Syndrome

Search GEO for disease gene expression data for Chromosome 22q11.2 Duplication Syndrome.

Pathways for Chromosome 22q11.2 Duplication Syndrome

Pathways related to Chromosome 22q11.2 Duplication Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.19 HRAS BCR
2 9.43 HRAS BCR

GO Terms for Chromosome 22q11.2 Duplication Syndrome

Biological processes related to Chromosome 22q11.2 Duplication Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inner ear morphogenesis GO:0042472 8.96 TBX1 BCR
2 positive regulation of epithelial cell proliferation GO:0050679 8.62 TBX1 HRAS

Sources for Chromosome 22q11.2 Duplication Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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