MCID: TRS012
MIFTS: 25

Trisomy 22

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Trisomy 22

MalaCards integrated aliases for Trisomy 22:

Name: Trisomy 22 20 29 70
Chromosome 22 Trisomy 20

Classifications:



External Ids:

UMLS 70 C0265490

Summaries for Trisomy 22

GARD : 20 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 chromosomal triplication and down syndrome. An important gene associated with Trisomy 22 is CGB7 (Chorionic Gonadotropin Subunit Beta 7). Affiliated tissues include myeloid, eye and heart, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Wikipedia : 73 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
Autosomal Trisomy Total Autosomal Trisomy

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

(show top 50) (show all 110)
# Related Disease Score Top Affiliating Genes
1 chromosomal triplication 31.1 PAPPA CGB7
2 down syndrome 29.7 PAPPA CGB7
3 pre-eclampsia 29.2 PAPPA CGB7
4 neural tube defects 29.1 PAPPA CGB7
5 mosaic trisomy 22 11.7
6 cleft palate, isolated 10.4
7 hypertelorism 10.3
8 microcephaly 10.3
9 heart septal defect 10.3
10 47,xyy 10.3
11 hypotonia 10.2
12 cat eye syndrome 10.2
13 nondisjunction 10.1
14 leukemia, acute myeloid 10.1
15 oligohydramnios 10.1
16 myeloid leukemia 10.1
17 hypereosinophilic syndrome 10.1
18 strabismus 10.1
19 ventricular septal defect 10.1
20 mechanical strabismus 10.1
21 microtia 10.1
22 epicanthus 10.0
23 chromosome 2q35 duplication syndrome 10.0
24 hypospadias 10.0
25 patau syndrome 10.0
26 gonadal dysgenesis 10.0
27 atrial heart septal defect 10.0
28 turner syndrome 10.0
29 holoprosencephaly 10.0
30 cleft lip 10.0
31 coloboma of macula 9.9
32 diaphragmatic hernia, congenital 9.9
33 anus, imperforate 9.9
34 cryptorchidism, unilateral or bilateral 9.9
35 fryns syndrome 9.9
36 hypomelanosis of ito 9.9
37 branchiootic syndrome 1 9.9
38 atrioventricular septal defect 9.9
39 alacrima, achalasia, and mental retardation syndrome 9.9
40 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
41 ptosis 9.9
42 hydrocephalus 9.9
43 cystic lymphangioma 9.9
44 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 9.9
45 cleft lip/palate 9.9
46 maternal uniparental disomy 9.9
47 triploidy 9.8 PAPPA CGB7
48 ectopic pregnancy 9.8 PAPPA CGB7
49 atrial standstill 1 9.8
50 hirschsprung disease 1 9.8

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 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 10.03 PAPPA
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-118 10.03 CGB7
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 10.03 CGB7
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-178 10.03 PAPPA
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 10.03 CGB7
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 10.03 PAPPA
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-32 10.03 PAPPA
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-42 10.03 CGB7
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 10.03 CGB7
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-6 10.03 PAPPA
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-8 10.03 PAPPA
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 10.03 CGB7
13 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.1 PAPPA
14 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.1 PAPPA
15 Increased shRNA abundance (Z-score > 2) GR00366-A-134 9.1 CGB7
16 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.1 CGB7
17 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.1 PAPPA
18 Increased shRNA abundance (Z-score > 2) GR00366-A-95 9.1 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 29

Anatomical Context for Trisomy 22

MalaCards organs/tissues related to Trisomy 22:

40
Myeloid, Eye, Heart, Bone Marrow, Placenta, Bone, Breast

Publications for Trisomy 22

Articles related to Trisomy 22:

(show top 50) (show all 297)
# Title Authors PMID Year
1
Prenatal diagnosis of low-level trisomy 22 mosaicism with a favorable outcome. 61
33678351 2021
2
Fetal cystic hygroma in the first trimester led to diagnosis of partial trisomy 22. 61
33796308 2021
3
BACs-on-Beads™ assay for a case of trisomy 22 confined placental mosaicism. 61
32799711 2020
4
Comparison of therapy-related and de novo core binding factor acute myeloid leukemia: A bone marrow pathology group study. 61
32249963 2020
5
Should cell-free DNA testing be used in pregnancy with increased fetal nuchal translucency? 61
31301176 2020
6
Retrospective analysis of fetal vertebral defects: Associated anomalies, etiologies, and outcome. 61
31880412 2020
7
Follow-Up Studies of cf-DNA Testing from 101 Consecutive Fetuses and Related Ultrasound Findings. 61
30253427 2020
8
[Acute myeloid leukemia with inversion of chromosome 16: cytological, immunophenotypic and cytogenetic disruption]. 61
32319947 2020
9
Prenatal diagnosis of trisomy 22 at the first trimester of pregnancy. 61
31340704 2020
10
Cytogenetic Investigation in 136 Consecutive Stillbirths: Does the Tissue Type Affect the Success Rate of Chromosomal Microarray Analysis and Karyotype? 61
31955157 2020
11
Chromosomal copy number variations in products of conception from spontaneous abortion by next-generation sequencing technology. 61
31764825 2019
12
Mosaic trisomy 22 at amniocentesis: Prenatal diagnosis and literature review. 61
31542095 2019
13
[Genetic testing of chorionic villi from abortuses during early pregnancy]. 61
31055802 2019
14
[Detection of chromosomal abnormalities in abortic tissues derived from patients with recurrent abortions using BoBs technique]. 61
31030444 2019
15
Mosaic trisomy 22 in a 4-year-old boy with congenital heart disease and general hypotrophy: A case report. 61
30259573 2019
16
[Comparison of the etiological constitution of two and three or more recurrent miscarriage]. 61
30585025 2018
17
Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas? 61
30187503 2018
18
Trisomy 22 with long spina bifida occulta: A case report. 61
30278506 2018
19
Rare autosomal trisomies: Important and not so rare. 61
29956348 2018
20
Effect of maternal age on spontaneous abortion during the first trimester in Northeast China. 61
28502197 2018
21
Tissue Specificity in Trisomy 22 Mosaicism: A Tale of Caution for Interpretation of Chromosomal Microarray Results. 61
30521494 2018
22
Chromosomal karyotype in chorionic villi of recurrent spontaneous abortion patients. 61
29553099 2018
23
SNP-array lesions in core binding factor acute myeloid leukemia. 61
29464086 2018
24
Development of a Chromosomal Microarray Test for the Detection of Abnormalities in Formalin-Fixed, Paraffin-Embedded Products of Conception Specimens. 61
28807814 2017
25
Application of non-invasive prenatal testing in late gestation in a pregnancy associated with intrauterine growth restriction and trisomy 22 confined placental mosaicism. 61
29037560 2017
26
[Chorionic villus cell culture and karyotype analysis in 1 983 cases of spontaneous miscarriage]. 61
28797153 2017
27
Chimpanzee Down syndrome: a case study of trisomy 22 in a captive chimpanzee. 61
28220267 2017
28
Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability. 61
27452446 2016
29
Detection of aneuploidies in spontaneous abortions by quantitative fluorescent PCR with short tandem repeat markers: a retrospective study. 61
27706771 2016
30
[Detection of chromosome aneuploidies in spontaneous abortion villus samples by quantitative fluorescence PCR]. 61
27060322 2016
31
[Refractory primary myeloid sarcoma of the breast with MLL-AF9 rearrangement]. 61
26861104 2016
32
Aneuploidy in Early Miscarriage and its Related Factors. 61
26481744 2015
33
[Trisomy 22 syndrome: a case report]. 61
26182287 2015
34
The typology and function of private speech in a young man with intellectual disabilities: An empirical case study. 61
25548198 2015
35
[Trisomy 22 syndreom: a report of 2 cases]. 61
26014708 2015
36
Severe psychomotor delay in a severe presentation of cat-eye syndrome. 61
25648072 2015
37
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. 61
25257307 2014
38
Acute myeloid leukemia presenting as "bowel upset": a case report. 61
25177572 2014
39
Noninvasive prenatal testing for microdeletion syndromes and expanded trisomies: proceed with caution. 61
24785862 2014
40
Placental C4d as a common feature of chromosomally normal and abnormal miscarriages. 61
24671647 2014
41
Two trisomy 22 live births in one hospital in 15 months: is it as rare as we thought? 61
24093507 2014
42
Abnormalities in spontaneous abortions detected by G-banding and chromosomal microarray analysis (CMA) at a national reference laboratory. 61
24914406 2014
43
'Bat-like' choroid plexus and other sonographic features in trisomy 22 at the first trimester of pregnancy. 61
23893340 2013
44
Giant invasive sacral schwannoma showing chromosomal numerical aberrations [-14,+18,+22]. 61
24066220 2013
45
Neuropsychological and behavioural phenotype of Dandy-Walker variant presenting in chromosome 22 trisomy: a case study. 61
23479418 2013
46
Trisomy 22 mosaicism and normal developmental outcome: report of two patients and review of the literature. 61
23529842 2013
47
Isolated left ventricular noncompaction in a newborn with Pierre-Robin sequence. 61
22447382 2013
48
inv(16)/t(16;16) acute myeloid leukemia with non-type A CBFB-MYH11 fusions associate with distinct clinical and genetic features and lack KIT mutations. 61
23160462 2013
49
Live-born trisomy 22: patient report and review. 61
23599696 2013
50
Secondary genetic lesions in acute myeloid leukemia with inv(16) or t(16;16): a study of the German-Austrian AML Study Group (AMLSG). 61
23115274 2013

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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