MCID: TRS012
MIFTS: 26

Trisomy 22

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for Trisomy 22

MalaCards integrated aliases for Trisomy 22:

Name: Trisomy 22 53 29 73
Chromosome 22 Trisomy 53

Classifications:



External Ids:

UMLS 73 C0265490

Summaries for Trisomy 22

NIH Rare Diseases : 53 Trisomy 22 is a chromosome disorder in which an extra (third) copy of chromosome 22 is present in every cell of the body where there should normally only be two copies. This condition is commonly found in miscarriages, but only rarely in liveborn infants. Most affected individuals die shortly before or shortly after birth due to severe complications. Common features include an underdeveloped midface (midface hypoplasia) with flat/broad nasal bridge, malformed ears with pits or tags, cleft palate, hypertelorism (wide-spaced eyes), microcephaly and other cranial abnormalities, congenital heart disease, genital abnormalities, and intrauterine growth restriction (IUGR). 

MalaCards based summary : Trisomy 22, also known as chromosome 22 trisomy, is related to down syndrome and mosaic trisomy 22. An important gene associated with Trisomy 22 is CGB7 (Chorionic Gonadotropin Subunit Beta 7). Affiliated tissues include eye, heart and myeloid, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 76 Trisomy 22 is a chromosomal disorder in which there are three copies of chromosome 22 rather than two.... more...

Related Diseases for Trisomy 22

Diseases in the Trisomy 1q family:

Trisomy 18-Like Syndrome Trisomy 22

Diseases related to Trisomy 22 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 down syndrome 28.3 CGB7 PAPPA
2 mosaic trisomy 22 12.5
3 leukemia 10.0
4 leukemia, acute myeloid 9.9
5 myeloid leukemia 9.9
6 supernumerary der(22)t(8 9.9
7 fryns syndrome 9.8
8 thyroiditis 9.8
9 cat eye syndrome 9.8
10 diaphragmatic hernia, congenital 9.7
11 hirschsprung disease 1 9.7
12 lymphoma 9.7
13 nondisjunction 9.7
14 hypospadias 9.7
15 choroiditis 9.7
16 renal hypodysplasia/aplasia 1 9.7
17 biliary atresia 9.7
18 chondrosarcoma 9.7
19 epilepsy 9.7
20 adenoma 9.7
21 lymphoma, hodgkin, classic 9.7
22 lymphoma, non-hodgkin, familial 9.7
23 acute monoblastic leukemia 9.7
24 dandy-walker complex 9.7
25 myelodysplastic syndrome 9.7
26 limb reduction defect 9.7
27 alacrima, achalasia, and mental retardation syndrome 9.7
28 acute leukemia 9.7
29 microtia 9.7
30 holoprosencephaly 9.7
31 hydrocephalus 9.7
32 triploidy 9.6 CGB7 PAPPA
33 ectopic pregnancy 9.5 CGB7 PAPPA

Graphical network of the top 20 diseases related to Trisomy 22:



Diseases related to Trisomy 22

Symptoms & Phenotypes for Trisomy 22

GenomeRNAi Phenotypes related to Trisomy 22 according to GeneCards Suite gene sharing:

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.62 CGB7
2 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.62 PAPPA
3 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.62 PAPPA
4 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.62 PAPPA
5 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.62 CGB7 PAPPA
6 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.62 CGB7 PAPPA
7 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.62 PAPPA
8 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.62 PAPPA
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 9.56 PAPPA
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.56 CGB7
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 9.56 CGB7
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.56 CGB7
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 9.56 PAPPA
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 9.56 CGB7
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.56 PAPPA CGB7

Drugs & Therapeutics for Trisomy 22

Search Clinical Trials , NIH Clinical Center for Trisomy 22

Genetic Tests for Trisomy 22

Genetic tests related to Trisomy 22:

# Genetic test Affiliating Genes
1 Trisomy 22 29

Anatomical Context for Trisomy 22

MalaCards organs/tissues related to Trisomy 22:

41
Eye, Heart, Myeloid, Bone, Skin, Thyroid, Monocytes

Publications for Trisomy 22

Articles related to Trisomy 22:

(show top 50) (show all 143)
# Title Authors Year
1
Chimpanzee Down syndrome: a case study of trisomy 22 in a captive chimpanzee. ( 28220267 )
2017
2
Application of non-invasive prenatal testing in late gestation in a pregnancy associated with intrauterine growth restriction and trisomy 22 confined placental mosaicism. ( 29037560 )
2017
3
Two trisomy 22 live births in one hospital in 15 months: is it as rare as we thought? ( 24093507 )
2014
4
Co-occurrence of non-mosaic trisomy 22 and inherited balanced t(4;6)(q33;q23.3) in a liveborn female: Case report and review of the literature. ( 25257307 )
2014
5
Trisomy 22 mosaicism and normal developmental outcome: report of two patients and review of the literature. ( 23529842 )
2013
6
'Bat-like' choroid plexus and other sonographic features in trisomy 22 at the first trimester of pregnancy. ( 23893340 )
2013
7
Live-born trisomy 22: patient report and review. ( 23599696 )
2013
8
Complex cardiac defect, bowing of lower limbs and multiple anomalies in trisomy 22. Ultrasound, post-mortem CT findings with necropsy confirmation. ( 22497685 )
2012
9
Suspected trisomy 22: Modification, clarification, or confirmation of the diagnosis by aCGH. ( 21271668 )
2011
10
A unique case of a patient with partial trisomy 22 and lipodystrophy: is it a new syndrome due to an IGF-IR mutation? ( 20681219 )
2010
11
Prenatal diagnosis and postnatal follow-up of a child with mosaic trisomy 22 with several levels of mosaicism in different tissues. ( 20722987 )
2010
12
Trisomy 22: the heart aspect. ( 20701517 )
2010
13
Mosaic trisomy 22: five new cases with variable outcomes. Implications for genetic counselling and clinical management. ( 20020488 )
2010
14
Agenesis of the ductus venosus in a fetus with nonmosaic trisomy 22. ( 19499517 )
2009
15
Mosaic trisomy 22 associated with total colonic aganglionosis and malrotation. ( 19159711 )
2009
16
Association between fetal Doppler velocimetry abnormalities and confined placental trisomy 22: A case report. ( 19350448 )
2009
17
Custom-made covered transjugular intrahepatic portosystemic shunt (TIPS) in an infant with trisomy 22 and biliary atresia. ( 19300990 )
2009
18
Ultrasound findings in trisomy 22. ( 18850513 )
2009
19
Trisomy 22 as the sole abnormality is an important marker for the diagnosis of acute myeloid leukemia with inversion 16. ( 18787351 )
2008
20
Distinctive pattern of first trimester maternal serum biochemical markers in trisomy 22 pregnancies. ( 19009551 )
2008
21
The origin of trisomy 22: evidence for acrocentric chromosome-specific patterns of nondisjunction. ( 17705154 )
2007
22
A longitudinal case study of a child with mosaic trisomy 22: language, cognitive, behavioral, physical, and dental outcomes. ( 17663479 )
2007
23
Maternal origin and clinical findings in a case with trisomy 22. ( 17990591 )
2007
24
Prenatally diagnosed mosaic trisomy 22 in a fetus with left ventricular non-compaction cardiomyopathy. ( 17937440 )
2007
25
Trisomy 8q and partial trisomy 22 in a 43-year-old man with moderate intellectual disability, epilepsy and large cell non-Hodgkin lymphoma. ( 16838305 )
2006
26
Trisomy 22 as sole cytogenetic abnormality in acute monoblastic leukemia (M5b). ( 16875946 )
2006
27
Costovertebral dysplasia in a patient with partial trisomy 22. ( 16259976 )
2006
28
Prenatal detection of microtia by MRI in a fetus with trisomy 22. ( 16770674 )
2006
29
Non-mosaic trisomy 22: a report of 2 cases. ( 16906599 )
2006
30
Mosaic trisomy 22: report of a patient with normal intelligence. ( 15551336 )
2005
31
Prenatal sonographic findings in trisomy 22: five case reports and review of the literature. ( 16239659 )
2005
32
Trisomy 22 as the sole karyotypic abnormality in myelodysplastic syndrome. ( 15814340 )
2005
33
Mosaic trisomy 22 in a boy with a terminal transverse limb reduction defect. ( 15057126 )
2004
34
Isochromosome 22 in trisomy 22 mosaic with five cell lines. ( 14679591 )
2004
35
Trisomy 22 with thyroid isthmus agenesis and absent gall bladder. ( 15517823 )
2004
36
Ocular manifestations of mosaic trisomy 22: a case report and review of the literature. ( 15255116 )
2004
37
Trisomy 22: a subclone marker? ( 12742160 )
2003
38
Trisomy 22 with unusual phenotype. ( 12736417 )
2003
39
Partial trisomy 22 resulting from rearrangements between chromosomes 11/22 and 16/22: a report of two cases. ( 12892172 )
2003
40
Unexpected survival in a case of prenatally diagnosed non-mosaic trisomy 22: Clinical report and review of the natural history. ( 12605450 )
2003
41
Second-trimester sonographic findings in trisomy 22: report of 3 cases and review of the literature. ( 14620898 )
2003
42
Supernumerary small marker chromosome (SMC) and uniparental disomy 22 in a child with confined placental mosaicism of trisomy 22: trisomy rescue due to marker chromosome formation. ( 14610348 )
2003
43
A second case of intrauterine growth retardation and primary hypospadias associated with a trisomy 22 placenta but with biparental inheritance of chromosome 22 in the fetus. ( 11857620 )
2002
44
Temporal bone histopathology in trisomy 22. ( 11378190 )
2001
45
Chromosome 9 alterations and trisomy 22 in central chondrosarcoma: a cytogenetic and DNA flow cytometric analysis of chondrosarcoma subtypes. ( 11763313 )
2001
46
Extended prenatal survival of a non-mosaic trisomy 22 with aneuploid cytotrophoblasts. ( 11746140 )
2001
47
A rare case: mosaic trisomy 22. ( 11755102 )
2001
48
Is inversion 16 a prerequisite and id trisomy 22 invariably associated with inversion 16 in AML-M4eo? ( 10991620 )
2000
49
Diaphragmatic hernia and Fryns syndrome phenotype in partial trisomy 22. ( 10893671 )
2000
50
Histopathological study on temporal bone and eustachian tube in trisomy 22. ( 11137593 )
2000

Variations for Trisomy 22

Expression for Trisomy 22

Search GEO for disease gene expression data for Trisomy 22.

Pathways for Trisomy 22

GO Terms for Trisomy 22

Sources for Trisomy 22

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....