MCID: CHR228
MIFTS: 9

Chromosome 20p Deletion

Categories: Rare diseases

Aliases & Classifications for Chromosome 20p Deletion

MalaCards integrated aliases for Chromosome 20p Deletion:

Name: Chromosome 20p Deletion 54
Chromosome 20, Deletion 20p 74
Partial Monosomy 20p 54
20p Deletion 54
20p Monosomy 54
Deletion 20p 54
Monosomy 20p 54

Classifications:



External Ids:

UMLS 74 C2930887

Summaries for Chromosome 20p Deletion

NIH Rare Diseases : 54 Chromosome 20p deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the short arm (p) of chromosome 20. The severity and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Extremely small deletions (microdeletions) involving the distal end of chromosome 20p are relatively common and in some cases are passed from parent to child without causing any health problems (called a familial variant). In other cases, a 20p deletion causes signs and symptoms such as developmental delay, growth delay, learning difficulties, distinctive facial features, birth defects, and/or various medical problems. Some 20p deletions are not inherited and occur randomly during the formation of egg or sperm cells, or very early in fetal development. Other 20p deletions are present because a parent has a rearrangement of genetic material on his/her chromosomes. This rearrangement is usually a balanced translocation, which typically does not cause any health problems. Occasionally, a parent has the same deletion as his/her child. Chromosome testing of both parents can provide information about whether the deletion was inherited. If a parent has the same deletion as the child and does not have signs or symptoms, a genetics doctor usually assumes that the 20p deletion is not the cause of the child�??s signs and symptoms. Treatment for chromosome 20p deletion is based on the signs and symptoms in each person. This page is meant to provide general information about 20p deletions. You can contact GARD if you have questions about a specific deletion on chromosome 20p. To learn more about chromosome abnormalities, please visit our GARD webpage on FAQs about Chromosome Disorders.

MalaCards based summary : Chromosome 20p Deletion, also known as chromosome 20, deletion 20p, is related to alagille syndrome 1 and chromosomal triplication. Affiliated tissues include testes.

Related Diseases for Chromosome 20p Deletion

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

# Related Disease Score Top Affiliating Genes
1 alagille syndrome 1 10.1
2 chromosomal triplication 10.1
3 xp22.3 microdeletion syndrome 10.1

Symptoms & Phenotypes for Chromosome 20p Deletion

Drugs & Therapeutics for Chromosome 20p Deletion

Search Clinical Trials , NIH Clinical Center for Chromosome 20p Deletion

Genetic Tests for Chromosome 20p Deletion

Anatomical Context for Chromosome 20p Deletion

MalaCards organs/tissues related to Chromosome 20p Deletion:

42
Testes

Publications for Chromosome 20p Deletion

Articles related to Chromosome 20p Deletion:

# Title Authors Year
1
Familial translocation t(6;20)(p21;p13) resulting in partial trisomy 6p and partial monosomy 20p: report of a new case and review of the literature. ( 22433391 )
2012

Variations for Chromosome 20p Deletion

Expression for Chromosome 20p Deletion

Search GEO for disease gene expression data for Chromosome 20p Deletion.

Pathways for Chromosome 20p Deletion

GO Terms for Chromosome 20p Deletion

Sources for Chromosome 20p Deletion

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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