MCID: 22Q001
MIFTS: 41

22q11.2 Duplication malady

Fetal diseases category

Summaries for 22q11.2 Duplication

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Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 22q11.2 duplication syndrome is a condition caused by an extra copy of a small piece of chromosome 22. 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 condition have no apparent physical or intellectual disabilities. it is inherited in an autosomal dominant manner, with about 70 percent of affected individuals inheriting the condition from a parent. in other cases it occurs as a de novo mutation (new genetic change) in an individual; however, individuals with a de novo mutation can can pass the duplication to their children. last updated: 5/10/2011

MalaCards: 22q11.2 Duplication, also known as chromosome 22q11.2 duplication syndrome, is related to digeorge syndrome and velocardiofacial syndrome, and has symptoms including megaureter/hydronephrosis/pyeloureteral junction syndrome, thymic aplasia/hypoplasia and ventricular septal defect/interventricular communication. An important gene associated with 22q11.2 Duplication is DUP22Q11.2 (Chromosome 22q11.2 microduplication syndrome). Affiliated tissues include heart and eye.

Genetics Home Reference:21 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.

Description from OMIM:46 608363

GeneReviews summary for dupl22q11

Aliases & Classifications for 22q11.2 Duplication

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Sources:
19GeneReviews, 42NIH Rare Diseases, 21Genetics Home Reference, 20GeneTests, 22GTR, 48Orphanet, 46OMIM, 60UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases


Characteristics (Orphanet epidemiological data):

48
22q11.2 microduplication syndrome:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Neonatal/infancy


Aliases & Descriptions:

22q11.2 duplication 19 42 21
chromosome 22q11.2 duplication syndrome 42 21 60
22q11.2 microduplication syndrome 42 48 46
22q11.2 duplication syndrome 42 20 22
chromosome 22q11.2 microduplication syndrome 21 46
gene duplication abnormality 60
duplication 22q11.2 48
trisomy 22q11.2 48
dup(22)(q11) 48


External Ids:

OMIM46 608363
ICD10 via Orphanet26 Q92.3

Related Diseases for 22q11.2 Duplication

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17GeneCards, 18GeneDecks
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Diseases related to 22q11.2 Duplication via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 63)
idRelated DiseaseScoreTop Affiliating Genes
1digeorge syndrome30.1TBX1
2velocardiofacial syndrome30.1CECR2, TBX1
3cat eye syndrome10.4
4distal 22q11.2 microduplication syndrome10.4
5autistic disorder10.1
6congenital heart defect10.1
7schizophrenia10.1
8caudal duplication10.0
9chromosome 10p duplication10.0
10chromosome 10q duplication10.0
11chromosome 11p duplication10.0
12chromosome 11q duplication10.0
13chromosome 12p duplication10.0
14chromosome 12q duplication10.0
15chromosome 13q duplication10.0
16chromosome 14q duplication10.0
17chromosome 15q duplication10.0
18isodicentric chromosome 15 syndrome10.0
19chromosome 16p duplication10.0
20chromosome 16p13.3 duplication10.0
21chromosome 16q duplication10.0
22chromosome 17p duplication10.0
23chromosome 17q duplication10.0
24chromosome 18p duplication10.0
25chromosome 18q duplication10.0
26chromosome 19p duplication10.0
27chromosome 19q duplication10.0
28chromosome 1p duplication10.0
29chromosome 1q duplication10.0
30chromosome 20p duplication10.0
31chromosome 20q duplication10.0
32chromosome 21q duplication10.0
33chromosome 2p duplication10.0
34chromosome 2q duplication10.0
35chromosome 3p duplication10.0
36chromosome 4p duplication10.0
37chromosome 4q duplication10.0
38chromosome 5p duplication10.0
39chromosome 6p duplication10.0
40chromosome 6q duplication10.0
41chromosome 7p duplication10.0
42chromosome 7q duplication10.0
43chromosome 8p duplication10.0
44chromosome 8q duplication10.0
45chromosome 9p duplication10.0
46chromosome 9q duplication10.0
47chromosome xq duplication10.0
48duplication of urethra10.0
49gastric duplication cysts10.0
50rectal duplication10.0

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



Diseases related to 22q11.2 duplication

Clinical Features for 22q11.2 Duplication

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

608363

Clinical synopsis from OMIM:

608363

Symptoms:

48 (show all 40)
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • thymic aplasia/hypoplasia
  • ventricular septal defect/interventricular communication
  • tetralogy of fallot/trilogy of fallot
  • transposition of great vessels
  • hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption
  • hypoplastic left heart/ventricle
  • scoliosis
  • urethral anomalies/stenosis/posterior urethral valves/megalocystis
  • hypospadias/epispadias/bent penis
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • obsessive-compulsive disorder
  • autism/autistic disoders
  • hyperactivity/attention deficit
  • seizures/epilepsy/absences/spasms/status epilepticus
  • tics/stereotypias
  • hearing loss/hypoacusia/deafness
  • bifid/cleft ear lobe/ear lobe pits
  • long/large/bulbous nose
  • epicanthic folds
  • mid-facial hypoplasia/short/small midface
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • hypertelorism
  • narrow face
  • high forehead
  • total/partial trisomy/duplication
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • anomaly of the pharynx/pharyngeal anomaly
  • abnormal cry/voice/phonation disorder/nasal speech
  • philtrum flat/large/featureless/absent cupidon bows
  • broad nose/nasal bridge
  • ptosis
  • micrognathia/retrognathia/micrognathism/retrognathism
  • microcephaly
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • hypotonia
  • autosomal dominant inheritance

Drugs & Therapeutics for 22q11.2 Duplication

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Genetic Tests for 22q11.2 Duplication

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20GeneTests, 22GTR
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Genetic tests related to 22q11.2 Duplication:

id Genetic test Affiliating Genes
1 22q11.2 Duplication20
2 22q11.2 Duplication Syndrome22

Anatomical Context for 22q11.2 Duplication

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32MalaCards
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MalaCards organs/tissues related to 22q11.2 Duplication:

32
Heart, Eye

Animal Models for 22q11.2 Duplication or affiliated genes

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Publications for 22q11.2 Duplication

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50PubMed
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Articles related to 22q11.2 Duplication:

(show all 15)
idTitleAuthorsYear
1
Evidence that duplications of 22q11.2 protect against schizophrenia. (24217254)
2014
2
Chromosome 22q11.2 duplication is rare in a population-based cohort of Danish children with cardiovascular malformations. (22302736)
2012
3
Additional case of an uncommon 22q11.2 reciprocal rearrangement in a phenotypically normal mother of children with 22q11.2 deletion and 22q11.2 duplication syndromes. (22987734)
2012
4
22q11.2 duplication and congenital heart defects. (19936446)
2009
5
Association of syndromic mental retardation and autism with 22q11.2 duplication. (20020400)
2009
6
Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia. (18284679)
2008
7
Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication. (18076674)
2008
8
Clinical variability of the 22q11.2 duplication syndrome. (18707033)
2008
9
Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation. (17377518)
2007
10
Autistic disorder and 22q11.2 duplication. (17455106)
2007
11
22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes. (16007629)
2005
12
Traffic of genetic information between segmental duplications flanking the typical 22q11.2 deletion in velo-cardio-facial syndrome/DiGeorge syndrome. (16251458)
2005
13
Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome. (12746416)
2003
14
The gene for death agonist BID maps to the region of human 22q11.2 duplicated in cat eye syndrome chromosomes and to mouse chromosome 6. (9721221)
1998
15
22q11.2 Duplication (20301749)
1993

Genetic Variations for 22q11.2 Duplication

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Expression for genes affiliated with 22q11.2 Duplication

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with 22q11.2 Duplication

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

Pathways for genes affiliated with 22q11.2 Duplication

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Compounds for genes affiliated with 22q11.2 Duplication

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GO Terms for genes affiliated with 22q11.2 Duplication

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Products for genes affiliated with 22q11.2 Duplication

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for 22q11.2 Duplication

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet