MCID: PRT216
MIFTS: 7

Partial Trisomy of Chromosome 20

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Partial Trisomy of Chromosome 20

MalaCards integrated aliases for Partial Trisomy of Chromosome 20:

Name: Partial Trisomy of Chromosome 20 59
Partial Duplication of Chromosome 20 59

Classifications:



External Ids:

Orphanet 59 ORPHA262692

Summaries for Partial Trisomy of Chromosome 20

MalaCards based summary : Partial Trisomy of Chromosome 20, also known as partial duplication of chromosome 20, is related to ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and brachydactyly.

Related Diseases for Partial Trisomy of Chromosome 20

Diseases related to Partial Trisomy of Chromosome 20 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
2 brachydactyly 10.0
3 chromosomal triplication 10.0

Symptoms & Phenotypes for Partial Trisomy of Chromosome 20

Drugs & Therapeutics for Partial Trisomy of Chromosome 20

Search Clinical Trials , NIH Clinical Center for Partial Trisomy of Chromosome 20

Genetic Tests for Partial Trisomy of Chromosome 20

Anatomical Context for Partial Trisomy of Chromosome 20

Publications for Partial Trisomy of Chromosome 20

Articles related to Partial Trisomy of Chromosome 20:

# Title Authors PMID Year
1
Clinical Observation of a Child with Prenatally Diagnosed De Novo Partial Trisomy of Chromosome 20. 38
30893560 2019
2
Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure. 38
26248010 2016
3
Partial trisomy 20. 38
6971621 1981

Variations for Partial Trisomy of Chromosome 20

Expression for Partial Trisomy of Chromosome 20

Search GEO for disease gene expression data for Partial Trisomy of Chromosome 20.

Pathways for Partial Trisomy of Chromosome 20

GO Terms for Partial Trisomy of Chromosome 20

Sources for Partial Trisomy of Chromosome 20

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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