MCID: TRS011
MIFTS: 15

Trisomy 2 Mosaicism

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for Trisomy 2 Mosaicism

Summaries for Trisomy 2 Mosaicism

NIH Rare Diseases : 53 Trisomy 2 mosaicism is a rare chromosome disorder characterized by having an extra copy of chromosome 2 in a proportion, but not all, of a person’s cells. Many cases of trisomy 2 mosaicism result in miscarriage during pregnancy. In infants born with trisomy 2 mosaicism, severity as well as signs and symptoms vary widely. Features of trisomy 2 mosaicism may include intrauterine growth restriction (IUGR), any of various birth defects, distinctive facial features, growth delay, developmental delays, and intellectual disabilities. However, children with trisomy 2 mosaicism with no significant medical problems have been reported (although long-term follow-up was not available). The severity and specific symptoms present generally depend on the level of mosaicism (the proportion of cells affected) and the location or type of affected cells in the body. Trisomy 2 mosaicism is not inherited. It is caused by a random error in cell division during early development of the embryo. When trisomy 2 mosaicism is detected during early pregnancy with chorionic villus sampling (CVS), the affected cells may be confined only to the placenta, and not present in the fetus. Amniocentesis is typically recommended to confirm this, and monitoring is still warranted due to an increased risk for intrauterine growth restriction, low amniotic fluid level (oligohydramnios), or other complications including stillbirth.

MalaCards based summary : Trisomy 2 Mosaicism, also known as mosaic trisomy 2, is related to hypomelanosis of ito and polydactyly. Affiliated tissues include placenta and liver.

Related Diseases for Trisomy 2 Mosaicism

Diseases related to Trisomy 2 Mosaicism via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypomelanosis of ito 9.9
2 polydactyly 9.7
3 myelodysplastic syndrome 9.7
4 leukemia 9.7
5 oligohydramnios 9.7
6 ventricular septal defect 9.7
7 uniparental disomy of chromosome 2 9.7
8 maternal uniparental disomy of chromosome 2 9.7
9 hirschsprung disease 1 9.7

Graphical network of the top 20 diseases related to Trisomy 2 Mosaicism:



Diseases related to Trisomy 2 Mosaicism

Symptoms & Phenotypes for Trisomy 2 Mosaicism

Drugs & Therapeutics for Trisomy 2 Mosaicism

Search Clinical Trials , NIH Clinical Center for Trisomy 2 Mosaicism

Genetic Tests for Trisomy 2 Mosaicism

Anatomical Context for Trisomy 2 Mosaicism

MalaCards organs/tissues related to Trisomy 2 Mosaicism:

41
Placenta, Liver

Publications for Trisomy 2 Mosaicism

Articles related to Trisomy 2 Mosaicism:

# Title Authors Year
1
Hypomelanosis of Ito with a trisomy 2 mosaicism: a case report. ( 25301139 )
2014
2
Application of interphase FISH to uncultured amniocytes for rapid confirmation of true trisomy 2 mosaicism in the case of suspected amniocyte mosaicism involving trisomy 2 in a single colony. ( 23915872 )
2013
3
Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia. ( 21416586 )
2011
4
Trisomy 2 mosaicism in hypomelanosis of Ito. ( 17853474 )
2007
5
Prenatal diagnosis of trisomy 2 mosaicism: a case report. ( 15539872 )
2004
6
True trisomy 2 mosaicism in amniocytes and newborn liver associated with multiple system abnormalities. ( 9332667 )
1997
7
Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture. ( 8533806 )
1995

Variations for Trisomy 2 Mosaicism

Expression for Trisomy 2 Mosaicism

Search GEO for disease gene expression data for Trisomy 2 Mosaicism.

Pathways for Trisomy 2 Mosaicism

GO Terms for Trisomy 2 Mosaicism

Sources for Trisomy 2 Mosaicism

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
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