MCID: CHR659
MIFTS: 42

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 56 52 25
Chromosome 22q11.2 Microduplication Syndrome 56 12 25 13 43 15 71
22q11.2 Microduplication Syndrome 12 52 58
22q11.2 Duplication Syndrome 52 29 6
22q11.2 Duplication 24 52 25
Duplication 22q11.2 12 58
Trisomy 22q11.2 12 58
Dup(22)(q11) 58

Characteristics:

Orphanet epidemiological data:

58
22q11.2 microduplication syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy;

OMIM:

56
Inheritance:
autosomal dominant
isolated cases

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


HPO:

31
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:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Chromosome 22q11.2 Duplication Syndrome

NIH Rare Diseases : 52 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 heart septal defect and chromosomal disease. An important gene associated with Chromosome 22q11.2 Duplication Syndrome is DUP22Q11.2 (Chromosome 22q11.2 Microduplication Syndrome). 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 : 74 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 70)
# Related Disease Score Top Affiliating Genes
1 heart septal defect 30.2 TBX1 PRODH HIRA
2 chromosomal disease 29.9 TBX1 PRODH HIRA
3 atrial heart septal defect 29.9 TBX1 PRODH LZTR1 HIRA
4 velocardiofacial syndrome 28.9 ZNF74 UFD1 TBX1 PRODH HIRA DGCR6L
5 tetralogy of fallot 28.2 ZNF74 UFD1 TBX1 PRODH LZTR1 HIRA
6 digeorge syndrome 26.5 ZNF74 UFD1 TBX6 TBX1 PRODH LZTR1
7 distal 22q11.2 microduplication syndrome 12.5
8 autism 10.3
9 thymic dysplasia 10.3 PRODH HIRA
10 autism spectrum disorder 10.2
11 tricuspid atresia 10.2 TBX1 PRODH
12 cleft palate, isolated 10.2
13 hypertelorism 10.1
14 patent ductus arteriosus 1 10.1 TBX1 PRODH HIRA
15 opitz-gbbb syndrome 10.1 TBX1 PRODH
16 palatopharyngeal incompetence 10.0
17 sturge-weber syndrome 10.0
18 teeth, supernumerary 10.0
19 immune deficiency disease 10.0
20 aural atresia, congenital 10.0
21 intraocular pressure quantitative trait locus 10.0
22 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
23 esophageal atresia 10.0
24 juvenile glaucoma 10.0
25 vacterl association 10.0
26 hemangioma 10.0
27 ovarian cyst 10.0
28 subvalvular aortic stenosis 10.0
29 learning disability 10.0
30 weber syndrome 10.0
31 alacrima, achalasia, and mental retardation syndrome 10.0
32 hypotonia 10.0
33 glass syndrome 10.0 NIF3L1 FAM149A
34 cat eye syndrome 9.9
35 laryngomalacia 9.9
36 strabismus 9.9
37 down syndrome 9.9
38 conotruncal heart malformations 9.9
39 cryptorchidism, unilateral or bilateral 9.9
40 hydrocephalus, congenital, 1 9.9
41 megalocornea 9.9
42 nephrotic syndrome, type 1 9.9
43 exstrophy of bladder 9.9
44 astigmatism 9.9
45 phelan-mcdermid syndrome 9.9
46 ventricular septal defect 3 9.9
47 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 9.9
48 brachydactyly 9.9
49 bladder exstrophy-epispadias-cloacal exstrophy complex 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:

58 31 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
2 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
3 neurological speech impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002167
4 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
5 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
6 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
7 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
8 midface retrusion 58 31 frequent (33%) Frequent (79-30%) HP:0011800
9 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
10 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
11 depressed nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000457
12 high forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000348
13 narrow face 58 31 frequent (33%) Frequent (79-30%) HP:0000275
14 abnormality of the pharynx 58 31 frequent (33%) Frequent (79-30%) HP:0000600
15 nasal speech 58 31 frequent (33%) Frequent (79-30%) HP:0001611
16 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
17 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
18 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
19 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
20 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
21 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
22 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
23 smooth philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000319
24 stereotypy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000733
25 autism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000717
26 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
27 growth delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001510
28 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
29 hypoplastic left heart 58 31 occasional (7.5%) Occasional (29-5%) HP:0004383
30 abnormality of immune system physiology 58 31 occasional (7.5%) Occasional (29-5%) HP:0010978
31 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
32 interrupted aortic arch 58 31 occasional (7.5%) Occasional (29-5%) HP:0011611
33 obsessive-compulsive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000722
34 tetralogy of fallot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001636
35 aplasia/hypoplasia of the thymus 58 31 occasional (7.5%) Occasional (29-5%) HP:0010515
36 wide nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000445
37 urethral stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008661
38 anterior creases of earlobe 58 31 occasional (7.5%) Occasional (29-5%) HP:0009908
39 transposition of the great arteries 58 31 occasional (7.5%) Occasional (29-5%) HP:0001669
40 displacement of the urethral meatus 31 occasional (7.5%) HP:0100627
41 low-set ears 31 HP:0000369
42 high palate 31 HP:0000218
43 generalized hypotonia 31 HP:0001290
44 specific learning disability 31 HP:0001328
45 abnormality of the pinna 31 HP:0000377
46 displacement of the external urethral meatus 58 Occasional (29-5%)
47 abnormality of cardiovascular system morphology 31 HP:0030680
48 velopharyngeal insufficiency 31 HP:0000220

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures
epicanthal folds

Head And Neck Face:
micrognathia

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 Head:
microcephaly

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:

40
Heart, Thymus, Testes, Eye

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. 24 56
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. 24 56
18260141 2008
3
Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication. 24 56
18076674 2008
4
Microduplication and triplication of 22q11.2: a highly variable syndrome. 24 56
15800846 2005
5
Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. 24 56
14526392 2003
6
Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems. 56
21792059 2011
7
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. 56
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. 56
19617637 2009
9
Population analysis of large copy number variants and hotspots of human genetic disease. 56
19166990 2009
10
22q11.2 Duplication 6
20301749 2009
11
Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome. 56
17041934 2006
12
The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies. 56
16761289 2006
13
Incidence of microduplication 22q11.2 in patients referred for FISH testing for velo cardiofacial and DiGeorge syndromes. 56
16175191 2005
14
A common molecular basis for rearrangement disorders on chromosome 22q11. 56
10369860 1999
15
Microduplication 22q11.2: a description of the clinical, developmental and behavioral characteristics during childhood. 24
22876571 2012
16
Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. 24
18414210 2008
17
Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification. 24
18000985 2007
18
Structural variation in the human genome. 24
17360997 2007
19
1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features. 24
17250668 2007
20
A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome. 24
15099348 2004
21
Ocular findings associated with chromosome 22q11.2 duplication. 61
27108843 2016
22
Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations. 61
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. 61
23159380 2012
24
Tourette syndrome and klippel-feil anomaly in a child with chromosome 22q11 duplication. 61
20069037 2009

Variations for Chromosome 22q11.2 Duplication Syndrome

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

6 (show all 18) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 subset of 49 genes: TBX1 GRCh37/hg19 22q11.21(chr22:18609712-21408430)copy number gain Pathogenic 625582 22:18609712-21408430
2 subset of 49 genes: TBX1 GRCh37/hg19 22q11.21(chr22:18611223-21408430)copy number gain Pathogenic 625583 22:18611223-21408430
3 subset of 48 genes: TBX1 GRCh37/hg19 22q11.21(chr22:18650745-21460220)copy number gain Pathogenic 625584 22:18650745-21460220
4 subset of 48 genes: TBX1 GRCh37/hg19 22q11.21(chr22:18650803-21460220)copy number gain Pathogenic 625585 22:18650803-21460220
5 subset of 48 genes: TBX1 GRCh37/hg19 22q11.21(chr22:18650803-21386010)copy number gain Pathogenic 625587 22:18650803-21386010
6 subset of 47 genes: TBX1 GRCh37/hg19 22q11.21(chr22:18892575-21460220)copy number gain Pathogenic 625588 22:18892575-21460220
7 subset of 29 genes: TBX1 GRCh37/hg19 22q11.21(chr22:18892575-20308800)copy number gain Pathogenic 625589 22:18892575-20308800
8 subset of 38 genes: TBX1 GRCh37/hg19 22q11.21(chr22:18900755-21075586)copy number gain Pathogenic 625590 22:18900755-21075586
9 subset of 52 genes: TBX1 GRCh37/hg19 22q11.21(chr22:18912514-21922035)copy number gain Pathogenic 625619 22:18912514-21922035
10 subset of 46 genes: TBX1 GRCh37/hg19 22q11.21(chr22:18923898-21431174)copy number gain Pathogenic 625622 22:18923898-21431174
11 subset of 47 genes: TBX1 GRCh37/hg19 22q11.21(chr22:18892575-21460220)copy number loss Pathogenic 625679 22:18892575-21460220
12 subset of 46 genes: TBX1 GRCh37/hg19 22q11.21(chr22:18912514-21431174)copy number gain Pathogenic 625681 22:18912514-21431174
13 subset of 47 genes: TBX1 GRCh37/hg19 22q11.21(chr22:18892575-21460220)copy number loss Pathogenic 625684 22:18892575-21460220
14 subset of 45 genes: TBX1 GRCh37/hg19 22q11.1-11.21(chr22:17289827-20311922)copy number gain Pathogenic 625807 22:17289827-20311922
15 subset of 48 genes: TBX1 GRCh37/hg19 22q11.21(chr22:18648855-21461017)x3copy number gain Pathogenic 636285 22:18648855-21461017
16 subset of 45 genes: TBX1 GRCh37/hg19 22q11.21(chr22:18937380-21459713)x3copy number gain Pathogenic 636286 22:18937380-21459713
17 subset of 54 genes: TBX1 GRCh37/hg19 22q11.21(chr22:18648855-21927646)x3copy number gain Pathogenic 636287 22:18648855-21927646
18 covers 30 genes, none of which curated to show dosage sensitivity GRCh37/hg19 22q11.21(chr22:19819477-21464764)x3copy number gain Pathogenic 636288 22:19819477-21464764

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

7
# CNVD ID Chromosome 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

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 mesoderm development GO:0007498 9.32 TBX6 TBX1
2 cell fate specification GO:0001708 9.26 TBX6 TBX1
3 retinoic acid receptor signaling pathway GO:0048384 9.16 TBX1 CRKL
4 parathyroid gland development GO:0060017 8.96 TBX1 CRKL
5 anatomical structure morphogenesis GO:0009653 8.92 TBX6 LZTR1 HIRA CLTCL1

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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