MCID: CHR221

Chromosome 1p Duplication malady

Category: Rare diseases

Aliases & Classifications for Chromosome 1p Duplication

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Aliases & Descriptions for Chromosome 1p Duplication:

Name: Chromosome 1p Duplication 48
Trisomy 1p 48 68
Partial Trisomy 1p 48
 
1p Duplication 48
Duplication 1p 48
1p Trisomy 48

Classifications:



Summaries for Chromosome 1p Duplication

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NIH Rare Diseases:48 Chromosome 1p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 1. 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 1p 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. Last updated: 5/7/2015

MalaCards based summary: Chromosome 1p Duplication, is also known as trisomy 1p Affiliated tissues include testes.

Related Diseases for Chromosome 1p Duplication

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Symptoms & Phenotypes for Chromosome 1p Duplication

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Drugs & Therapeutics for Chromosome 1p Duplication

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion SyndromesCompletedNCT00004351
2Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNARecruitingNCT02109770
3Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal BloodRecruitingNCT01852708
4SNP-based Microdeletion and Aneuploidy RegisTry (SMART)RecruitingNCT02381457

Search NIH Clinical Center for Chromosome 1p Duplication

Genetic Tests for Chromosome 1p Duplication

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Anatomical Context for Chromosome 1p Duplication

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MalaCards organs/tissues related to Chromosome 1p Duplication:

36
Testes

Publications for Chromosome 1p Duplication

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Variations for Chromosome 1p Duplication

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Expression for genes affiliated with Chromosome 1p Duplication

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Search GEO for disease gene expression data for Chromosome 1p Duplication.

Pathways for genes affiliated with Chromosome 1p Duplication

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GO Terms for genes affiliated with Chromosome 1p Duplication

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Sources for Chromosome 1p Duplication

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet