MCID: TRS011
MIFTS: 13

Trisomy 2 Mosaicism

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for Trisomy 2 Mosaicism

Summaries for Trisomy 2 Mosaicism

NIH Rare Diseases : 50 trisomy 2 mosaicism is a rare chromosome disorder characterized by having an extra copy of chromosome 2 (three copies in total) in a proportion of a person’s cells. many cases of trisomy 2 mosaicism result in miscarriage during pregnancy. in infants born with trisomy 2 mosaicism, signs and symptoms vary widely and may include any of various birth defects. the severity and specific symptoms present 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. last updated: 6/1/2016

MalaCards based summary : Trisomy 2 Mosaicism, also known as mosaic trisomy 2, is related to hypomelanosis of ito and myelodysplastic syndrome. 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:

id Related Disease Score Top Affiliating Genes
1 hypomelanosis of ito 9.8
2 myelodysplastic syndrome 9.7
3 leukemia 9.7
4 polydactyly 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

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:

39
Placenta, Liver

Publications for Trisomy 2 Mosaicism

Articles related to Trisomy 2 Mosaicism:

id 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
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16 ExPASy
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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