MCID: 22Q001
MIFTS: 34

22q11.2 Duplication malady

Genetic diseases, Rare diseases, Fetal diseases categories

Aliases & Classifications for 22q11.2 Duplication

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Aliases & Descriptions for 22q11.2 Duplication:

Name: 22q11.2 Duplication 21 45 23
22q11.2 Microduplication Syndrome 45 22 51
Chromosome 22q11.2 Microduplication Syndrome 23 65
Chromosome 22q11.2 Duplication Syndrome 45 23
 
22q11.2 Duplication Syndrome 45 22
Duplication 22q11.2 51 24
Trisomy 22q11.2 51
Dup(22)(q11) 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
22q11.2 microduplication syndrome:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy


External Ids:

Orphanet51 1727
ICD10 via Orphanet28 Q92.3

Summaries for 22q11.2 Duplication

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NIH Rare Diseases:45 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 22q11.2 microduplication syndrome, is related to chromosome 22q11.2 microduplication syndrome and distal 22q11.2 microduplication syndrome, and has symptoms including autosomal dominant inheritance, total/partial trisomy/duplication and high forehead. An important gene associated with 22q11.2 Duplication is TBX1 (T-Box 1). Affiliated tissues include heart and eye.

Genetics Home Reference:23 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.

GeneReviews summary for dupl22q11

Related Diseases for 22q11.2 Duplication

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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:

 51 (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

Drugs & Therapeutics for 22q11.2 Duplication

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion SyndromesCompletedNCT00004351
2Microarray Analysis in Syndromic ObesityCompletedNCT01043198
3Non-Invasive Chromosomal Evaluation of 22q11.2RecruitingNCT02541058
4SNP-based Microdeletion and Aneuploidy RegisTry (SMART)RecruitingNCT02381457

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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 Duplication22
2 22q11.2 Duplication Syndrome24

Anatomical Context for 22q11.2 Duplication

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

33
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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Search GEO for disease gene expression data for 22q11.2 Duplication.

Pathways for genes affiliated with 22q11.2 Duplication

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GO Terms for genes affiliated with 22q11.2 Duplication

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Sources for 22q11.2 Duplication

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet