DUP
MCID: 22Q001
MIFTS: 42

22q11.2 Duplication (DUP) malady

Fetal category

Summaries for 22q11.2 Duplication

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 hypertelorism, scoliosis and seizures/epilepsy/absences/spasms/status epilepticus. An important gene associated with 22q11.2 Duplication is DUP22Q11.2 (Chromosome 22q11.2 microduplication syndrome). Affiliated tissues include brain, heart and b lymphoblasts.

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:47 608363

GeneReviews summary for dupl22q11

Aliases & Classifications for 22q11.2 Duplication

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
22q11.2 microduplication syndrome:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Neonatal/infancy


Aliases & Descriptions:

22q11.2 duplication 19 43 21
chromosome 22q11.2 duplication syndrome 43 21 61
22q11.2 microduplication syndrome 43 49 47
22q11.2 duplication syndrome 43 20 22
chromosome 22q11.2 microduplication syndrome 21 47
gene duplication abnormality 61
duplication 22q11.2 49
trisomy 22q11.2 49
22q11.2ds 19
dup 49


External Ids:

OMIM47 608363
ICD10 via Orphanet26 Q92.3

Related Diseases for 22q11.2 Duplication

Sources:
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 150)
idRelated DiseaseScoreTop Affiliating Genes
1digeorge syndrome30.1TBX1
2velocardiofacial syndrome30.1CECR2, TBX1
3distal 22q11.2 microduplication syndrome10.4
4micro syndrome10.2
5congenital aural atresia10.2
6chromosome 22q deletion10.2
7angelman syndrome10.2
8wolf-hirschhorn syndrome10.2
9acute leukemia10.2
10wolf–hirschhorn syndrome10.2
11char syndrome10.2
12prader-willi syndrome10.1
13isodicentric chromosome 15 syndrome10.1
14potocki-lupski syndrome10.1
15autistic disorder10.1
16n syndrome10.1
17chromosome 22q duplication10.1
18mental retardation10.1
19velocardiofacial syndrome 210.1
20digeorge syndrome 210.1
21autism spectrum disorder10.0
22caudal duplication10.0
23chromosome 10p duplication10.0
24chromosome 10q duplication10.0
25chromosome 11p duplication10.0
26chromosome 11q duplication10.0
27chromosome 12p duplication10.0
28chromosome 12q duplication10.0
29chromosome 13q duplication10.0
30chromosome 14q duplication10.0
31chromosome 15q duplication10.0
32chromosome 16p duplication10.0
33chromosome 16p13.3 duplication10.0
34chromosome 16q duplication10.0
35chromosome 17q duplication10.0
36chromosome 18p duplication10.0
37chromosome 18q duplication10.0
38chromosome 19p duplication10.0
39chromosome 19q duplication10.0
40chromosome 1p duplication10.0
41chromosome 1q duplication10.0
42chromosome 20q duplication10.0
43chromosome 21q duplication10.0
44chromosome 2q duplication10.0
45chromosome 3p duplication10.0
46chromosome 4p duplication10.0
47chromosome 4q duplication10.0
48chromosome 5p duplication10.0
49chromosome 6p duplication10.0
50chromosome 6q 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

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

608363

Clinical synopsis from OMIM:

608363

Symptoms:

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

Drugs & Therapeutics for 22q11.2 Duplication

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for 22q11.2 Duplication

Drug clinical trials:

Search ClinicalTrials for 22q11.2 Duplication

Search NIH Clinical Center for 22q11.2 Duplication

Search CenterWatch for 22q11.2 Duplication

Genetic Tests for 22q11.2 Duplication

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
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MalaCards organs/tissues related to 22q11.2 Duplication:

33
Brain, Heart, B lymphoblasts

Animal Models for 22q11.2 Duplication or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for 22q11.2 Duplication

Sources:
51PubMed
See all sources

Articles related to 22q11.2 Duplication:

(show all 19)
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
B-acute lymphoblastic leukemia and cystinuria in a patient with duplication 22q11.21 detected by chromosomal microarray analysis. (21225931)
2011
5
Partial trisomy due to a de novo duplication 22q11.1-22q13.1: a cat-eye syndrome variant with brain anomalies. (20420025)
2010
6
22q11.2 duplication and congenital heart defects. (19936446)
2009
7
Association of syndromic mental retardation and autism with 22q11.2 duplication. (20020400)
2009
8
Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia. (18284679)
2008
9
Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication. (18076674)
2008
10
Clinical variability of the 22q11.2 duplication syndrome. (18707033)
2008
11
Intrachromosomal duplications of 22q11 are not a common cause of isolated coloboma and coloboma with other limited features of cat eye syndrome. (18203172)
2008
12
Prevalence of duplications and deletions of the 22q11 DiGeorge syndrome region in a population-based sample of infants with cleft palate. (17163526)
2007
13
Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation. (17377518)
2007
14
Autistic disorder and 22q11.2 duplication. (17455106)
2007
15
22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes. (16007629)
2005
16
Traffic of genetic information between segmental duplications flanking the typical 22q11.2 deletion in velo-cardio-facial syndrome/DiGeorge syndrome. (16251458)
2005
17
Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome. (12746416)
2003
18
Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus. (11157784)
2001
19
22q11.2 Duplication (20301749)
1993

Genetic Variations for 22q11.2 Duplication

Expression for genes affiliated with 22q11.2 Duplication

Sources:
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

Compounds for genes affiliated with 22q11.2 Duplication

GO Terms for genes affiliated with 22q11.2 Duplication

Products for genes affiliated with 22q11.2 Duplication

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  • Lysates
  • Antibodies

Sources for 22q11.2 Duplication

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet