MCID: TRS012
MIFTS: 26

Trisomy 22

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Trisomy 22

MalaCards integrated aliases for Trisomy 22:

Name: Trisomy 22 54 30 74
Chromosome 22 Trisomy 54

Classifications:



External Ids:

UMLS 74 C0265490

Summaries for Trisomy 22

NIH Rare Diseases : 54 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, myeloid and bone, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 77 Trisomy 22 is a chromosomal disorder in which there are three copies of chromosome 22 rather than two.... more...

Related Diseases for Trisomy 22

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:

27 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.66 CGB7
2 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.66 PAPPA
3 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.66 PAPPA
4 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.66 PAPPA
5 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.66 PAPPA
6 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.66 CGB7 PAPPA
7 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.66 CGB7 PAPPA
8 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.66 PAPPA
9 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.66 PAPPA
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 9.5 PAPPA
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.5 CGB7
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 9.5 CGB7
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.5 CGB7
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 9.5 CGB7
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.5 CGB7 PAPPA

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 30

Anatomical Context for Trisomy 22

MalaCards organs/tissues related to Trisomy 22:

42
Eye, Myeloid, Bone, Skin, Thyroid, Colon, Placenta

Publications for Trisomy 22

Articles related to Trisomy 22:

(show top 50) (show all 147)
# Title Authors Year
1
Mosaic trisomy 22 in a 4-year-old boy with congenital heart disease and general hypotrophy: A case report. ( 30259573 )
2018
2
Trisomy 22 with long spina bifida occulta: A case report. ( 30278506 )
2018
3
Tissue Specificity in Trisomy 22 Mosaicism: A Tale of Caution for Interpretation of Chromosomal Microarray Results. ( 30521494 )
2018
4
Chimpanzee Down syndrome: a case study of trisomy 22 in a captive chimpanzee. ( 28220267 )
2017
5
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
6
Two trisomy 22 live births in one hospital in 15 months: is it as rare as we thought? ( 24093507 )
2014
7
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
8
Trisomy 22 mosaicism and normal developmental outcome: report of two patients and review of the literature. ( 23529842 )
2013
9
'Bat-like' choroid plexus and other sonographic features in trisomy 22 at the first trimester of pregnancy. ( 23893340 )
2013
10
Live-born trisomy 22: patient report and review. ( 23599696 )
2013
11
Complex cardiac defect, bowing of lower limbs and multiple anomalies in trisomy 22. Ultrasound, post-mortem CT findings with necropsy confirmation. ( 22497685 )
2012
12
Suspected trisomy 22: Modification, clarification, or confirmation of the diagnosis by aCGH. ( 21271668 )
2011
13
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
14
Prenatal diagnosis and postnatal follow-up of a child with mosaic trisomy 22 with several levels of mosaicism in different tissues. ( 20722987 )
2010
15
Trisomy 22: the heart aspect. ( 20701517 )
2010
16
Mosaic trisomy 22: five new cases with variable outcomes. Implications for genetic counselling and clinical management. ( 20020488 )
2010
17
Agenesis of the ductus venosus in a fetus with nonmosaic trisomy 22. ( 19499517 )
2009
18
Mosaic trisomy 22 associated with total colonic aganglionosis and malrotation. ( 19159711 )
2009
19
Association between fetal Doppler velocimetry abnormalities and confined placental trisomy 22: A case report. ( 19350448 )
2009
20
Custom-made covered transjugular intrahepatic portosystemic shunt (TIPS) in an infant with trisomy 22 and biliary atresia. ( 19300990 )
2009
21
Ultrasound findings in trisomy 22. ( 18850513 )
2009
22
Trisomy 22 as the sole abnormality is an important marker for the diagnosis of acute myeloid leukemia with inversion 16. ( 18787351 )
2008
23
Distinctive pattern of first trimester maternal serum biochemical markers in trisomy 22 pregnancies. ( 19009551 )
2008
24
The origin of trisomy 22: evidence for acrocentric chromosome-specific patterns of nondisjunction. ( 17705154 )
2007
25
A longitudinal case study of a child with mosaic trisomy 22: language, cognitive, behavioral, physical, and dental outcomes. ( 17663479 )
2007
26
Maternal origin and clinical findings in a case with trisomy 22. ( 17990591 )
2007
27
Prenatally diagnosed mosaic trisomy 22 in a fetus with left ventricular non-compaction cardiomyopathy. ( 17937440 )
2007
28
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
29
Trisomy 22 as sole cytogenetic abnormality in acute monoblastic leukemia (M5b). ( 16875946 )
2006
30
Costovertebral dysplasia in a patient with partial trisomy 22. ( 16259976 )
2006
31
Prenatal detection of microtia by MRI in a fetus with trisomy 22. ( 16770674 )
2006
32
Non-mosaic trisomy 22: a report of 2 cases. ( 16906599 )
2006
33
Mosaic trisomy 22: report of a patient with normal intelligence. ( 15551336 )
2005
34
Prenatal sonographic findings in trisomy 22: five case reports and review of the literature. ( 16239659 )
2005
35
Trisomy 22 as the sole karyotypic abnormality in myelodysplastic syndrome. ( 15814340 )
2005
36
Mosaic trisomy 22 in a boy with a terminal transverse limb reduction defect. ( 15057126 )
2004
37
Isochromosome 22 in trisomy 22 mosaic with five cell lines. ( 14679591 )
2004
38
Trisomy 22 with thyroid isthmus agenesis and absent gall bladder. ( 15517823 )
2004
39
Ocular manifestations of mosaic trisomy 22: a case report and review of the literature. ( 15255116 )
2004
40
Trisomy 22: a subclone marker? ( 12742160 )
2003
41
Trisomy 22 with unusual phenotype. ( 12736417 )
2003
42
Partial trisomy 22 resulting from rearrangements between chromosomes 11/22 and 16/22: a report of two cases. ( 12892172 )
2003
43
Unexpected survival in a case of prenatally diagnosed non-mosaic trisomy 22: Clinical report and review of the natural history. ( 12605450 )
2003
44
Second-trimester sonographic findings in trisomy 22: report of 3 cases and review of the literature. ( 14620898 )
2003
45
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
46
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
47
Temporal bone histopathology in trisomy 22. ( 11378190 )
2001
48
Chromosome 9 alterations and trisomy 22 in central chondrosarcoma: a cytogenetic and DNA flow cytometric analysis of chondrosarcoma subtypes. ( 11763313 )
2001
49
Extended prenatal survival of a non-mosaic trisomy 22 with aneuploid cytotrophoblasts. ( 11746140 )
2001
50
A rare case: mosaic trisomy 22. ( 11755102 )
2001

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....