MCID: CHR231
MIFTS: 11

Chromosome 20q Duplication

Categories: Rare diseases

Aliases & Classifications for Chromosome 20q Duplication

MalaCards integrated aliases for Chromosome 20q Duplication:

Name: Chromosome 20q Duplication 54
Partial Trisomy 20q 54
20q Duplication 54
Duplication 20q 54
20q Trisomy 54
Trisomy 20q 54

Classifications:



Summaries for Chromosome 20q Duplication

MalaCards based summary : Chromosome 20q Duplication, also known as partial trisomy 20q, is related to distal trisomy 20q and hydrocephalus, congenital, 1. Affiliated tissues include bone.

Related Diseases for Chromosome 20q Duplication

Diseases related to Chromosome 20q Duplication via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 distal trisomy 20q 11.3
2 hydrocephalus, congenital, 1 10.0
3 dextrocardia 10.0
4 jacobsen syndrome 10.0
5 chromosomal triplication 10.0

Graphical network of the top 20 diseases related to Chromosome 20q Duplication:



Diseases related to Chromosome 20q Duplication

Symptoms & Phenotypes for Chromosome 20q Duplication

Drugs & Therapeutics for Chromosome 20q Duplication

Search Clinical Trials , NIH Clinical Center for Chromosome 20q Duplication

Genetic Tests for Chromosome 20q Duplication

Anatomical Context for Chromosome 20q Duplication

MalaCards organs/tissues related to Chromosome 20q Duplication:

42
Bone

Publications for Chromosome 20q Duplication

Articles related to Chromosome 20q Duplication:

# Title Authors Year
1
Partial trisomy 20q in a fetus with hypoplastic nasal bone, mild ventriculomegaly, and short femur. ( 18661487 )
2008
2
Basilar artery dolichoectasia in a boy with a combination of partial monosomy 18p and partial trisomy 20q. ( 16957478 )
2006
3
Partial trisomy 20q in a newborn with dextrocardia. ( 12558114 )
2002
4
Partial trisomy 20q due to paternal t(8;20) translocation. Case report and review of the literature. ( 3288379 )
1988
5
Case report: partial trisomy 20q (20q13.13----qter). ( 3815878 )
1986

Variations for Chromosome 20q Duplication

Expression for Chromosome 20q Duplication

Search GEO for disease gene expression data for Chromosome 20q Duplication.

Pathways for Chromosome 20q Duplication

GO Terms for Chromosome 20q Duplication

Sources for Chromosome 20q Duplication

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
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