MCID: CHR238
MIFTS: 13

Chromosome 2p Duplication

Categories: Rare diseases

Aliases & Classifications for Chromosome 2p Duplication

MalaCards integrated aliases for Chromosome 2p Duplication:

Name: Chromosome 2p Duplication 54
Chromosome 2, Trisomy 2p 74
Partial Trisomy 2p 54
2p Duplication 54
Duplication 2p 54
2p Trisomy 54
Trisomy 2p 54

Classifications:



External Ids:

UMLS 74 C0795803

Summaries for Chromosome 2p Duplication

NIH Rare Diseases : 54 Chromosome 2p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Chromosome 2p Duplication, also known as chromosome 2, trisomy 2p, is related to distal trisomy 2p and heart disease. Affiliated tissues include heart.

Related Diseases for Chromosome 2p Duplication

Diseases related to Chromosome 2p Duplication via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 distal trisomy 2p 11.3
2 heart disease 10.0
3 chromosome 2q deletion 10.0
4 polydactyly, postaxial, type a1 10.0
5 polydactyly 10.0
6 anencephaly 10.0
7 chromosomal triplication 10.0

Graphical network of the top 20 diseases related to Chromosome 2p Duplication:



Diseases related to Chromosome 2p Duplication

Symptoms & Phenotypes for Chromosome 2p Duplication

Drugs & Therapeutics for Chromosome 2p Duplication

Search Clinical Trials , NIH Clinical Center for Chromosome 2p Duplication

Genetic Tests for Chromosome 2p Duplication

Anatomical Context for Chromosome 2p Duplication

MalaCards organs/tissues related to Chromosome 2p Duplication:

42
Heart

Publications for Chromosome 2p Duplication

Articles related to Chromosome 2p Duplication:

# Title Authors Year
1
Metachronous neuroblastoma in an infant with germline translocation resulting in partial trisomy 2p: a role for ALK? ( 24276038 )
2014
2
Clinical manifestations of partial trisomy 2p. ( 25322981 )
2014
3
Partial trisomy 2p and partial monosomy 2q arising from a paternal intrachromosomal 2q-into-2p between-arm insertion and paracentric inversion: molecular cytogenetic characterization of a four-break rearrangement. ( 23652918 )
2013
4
Cytogenetic and molecular characterization of a partial trisomy 2p arising from inverted duplication of 2p with terminal deletion of 2pter. ( 19876903 )
2009
5
Congenital heart disease reminiscent of partial trisomy 2p syndrome in mice transgenic for the transcription factor Lbh. ( 15958514 )
2005
6
Phenotype of a patient with pure partial trisomy 2p(p23-->pter). ( 11050631 )
2000
7
Molecular cytogenetic studies in three patients with partial trisomy 2p, including CGH from paraffin-embedded tissue. ( 10751094 )
2000

Variations for Chromosome 2p Duplication

Expression for Chromosome 2p Duplication

Search GEO for disease gene expression data for Chromosome 2p Duplication.

Pathways for Chromosome 2p Duplication

GO Terms for Chromosome 2p Duplication

Sources for Chromosome 2p 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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