MCID: 22Q001
MIFTS: 38

22q11.2 Duplication malady

Genetic diseases, Rare diseases, Fetal diseases categories
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Summaries for 22q11.2 Duplication

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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 based summary: 22q11.2 Duplication, also known as chromosome 22q11.2 microduplication syndrome, is related to distal 22q11.2 microduplication syndrome and congenital aural atresia, and has symptoms including autosomal dominant inheritance, total/partial trisomy/duplication and high forehead. 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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22q11.2 Duplication, Aliases & Descriptions:

Name: 22q11.2 Duplication 19 42 21
Chromosome 22q11.2 Microduplication Syndrome 21 46 62
Chromosome 22q11.2 Duplication Syndrome 42 21 62
22q11.2 Microduplication Syndrome 42 48 46
22q11.2 Duplication Syndrome 42 20 22
 
Gene Duplication Abnormality 62
Duplication 22q11.2 48
Trisomy 22q11.2 48
Dup(22)(q11) 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 608363
ICD10 via Orphanet26 Q92.3

Related Diseases for 22q11.2 Duplication

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

idRelated DiseaseScoreTop Affiliating Genes
1distal 22q11.2 microduplication syndrome10.4
2congenital aural atresia10.3
3autistic disorder10.1
4schizophrenia10.1
5velocardiofacial syndrome10.1
6cat eye syndrome10.1
7mental retardation10.1

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



Diseases related to 22q11.2 duplication

Symptoms for 22q11.2 Duplication

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Symptoms by clinical synopsis from OMIM:

608363

Clinical features from OMIM:

608363

Symptoms:

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

HPO human phenotypes related to 22q11.2 Duplication:

(show all 55)
id Description Frequency HPO Source Accession
1 abnormality of chromosome segregation hallmark (90%) HP:0002916
2 cleft palate typical (50%) HP:0000175
3 malar flattening typical (50%) HP:0000272
4 narrow face typical (50%) HP:0000275
5 epicanthus typical (50%) HP:0000286
6 hypertelorism typical (50%) HP:0000316
7 high forehead typical (50%) HP:0000348
8 downslanted palpebral fissures typical (50%) HP:0000494
9 abnormality of the pharynx typical (50%) HP:0000600
10 muscular hypotonia typical (50%) HP:0001252
11 abnormality of the voice typical (50%) HP:0001608
12 neurological speech impairment typical (50%) HP:0002167
13 abnormal nasal morphology typical (50%) HP:0005105
14 cognitive impairment typical (50%) HP:0100543
15 microcephaly occasional (7.5%) HP:0000252
16 abnormality of the philtrum occasional (7.5%) HP:0000288
17 micrognathia occasional (7.5%) HP:0000347
18 hearing impairment occasional (7.5%) HP:0000365
19 ptosis occasional (7.5%) HP:0000508
20 autism occasional (7.5%) HP:0000717
21 obsessive-compulsive behavior occasional (7.5%) HP:0000722
22 stereotypic behavior occasional (7.5%) HP:0000733
23 seizures occasional (7.5%) HP:0001250
24 ventricular septal defect occasional (7.5%) HP:0001629
25 tetralogy of fallot occasional (7.5%) HP:0001636
26 transposition of the great arteries occasional (7.5%) HP:0001669
27 abnormality of the aorta occasional (7.5%) HP:0001679
28 scoliosis occasional (7.5%) HP:0002650
29 hypoplastic left heart occasional (7.5%) HP:0004383
30 attention deficit hyperactivity disorder occasional (7.5%) HP:0007018
31 anterior creases of earlobe occasional (7.5%) HP:0009908
32 aplasia/hypoplasia of the thymus occasional (7.5%) HP:0010515
33 abnormality of the upper urinary tract occasional (7.5%) HP:0010935
34 abnormality of immune system physiology occasional (7.5%) HP:0010978
35 displacement of the external urethral meatus occasional (7.5%) HP:0100627
36 autosomal dominant inheritance HP:0000006
37 high palate HP:0000218
38 velopharyngeal insufficiency HP:0000220
39 microcephaly HP:0000252
40 epicanthus HP:0000286
41 hypertelorism HP:0000316
42 micrognathia HP:0000347
43 low-set ears HP:0000369
44 abnormality of the pinna HP:0000377
45 depressed nasal ridge HP:0000457
46 downslanted palpebral fissures HP:0000494
47 delayed speech and language development HP:0000750
48 intellectual disability HP:0001249
49 muscular hypotonia HP:0001252
50 global developmental delay HP:0001263
51 specific learning disability HP:0001328
52 growth delay HP:0001510
53 nasal speech HP:0001611
54 malformation of the heart and great vessels HP:0002564
55 sporadic HP:0003745

Drugs & Therapeutics for 22q11.2 Duplication

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Drug clinical trials:

Search ClinicalTrials for 22q11.2 Duplication

Search NIH Clinical Center for 22q11.2 Duplication

Genetic Tests for 22q11.2 Duplication

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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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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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Articles related to 22q11.2 Duplication:

(show all 12)
idTitleAuthorsYear
1
A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation. (24767651)
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
Autistic disorder and 22q11.2 duplication. (17455106)
2007
10
22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes. (16007629)
2005
11
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
12
22q11.2 Duplication (20301749)
1993

Variations for 22q11.2 Duplication

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Expression for genes affiliated with 22q11.2 Duplication

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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
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet