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 53
Partial Trisomy 20q 53
20q Duplication 53
Duplication 20q 53
20q Trisomy 53
Trisomy 20q 53

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 11.2
2 hydrocephalus, congenital, 1 10.0
3 dextrocardia 10.0
4 jacobsen syndrome 10.0

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:

41
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 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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