MCID: CHR221
MIFTS: 8

Chromosome 1p Duplication malady

Categories: Rare diseases

Aliases & Classifications for Chromosome 1p Duplication

Aliases & Descriptions for Chromosome 1p Duplication:

Name: Chromosome 1p Duplication 50
Trisomy 1p 50 69
Partial Trisomy 1p 50
1p Duplication 50
Duplication 1p 50
1p Trisomy 50

Classifications:



Summaries for Chromosome 1p Duplication

NIH Rare Diseases : 50 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.

Related Diseases for Chromosome 1p Duplication

Symptoms & Phenotypes for Chromosome 1p Duplication

Drugs & Therapeutics for Chromosome 1p Duplication

Interventional clinical trials:


id Name Status NCT ID Phase
1 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
2 Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA Recruiting NCT02109770
3 Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood Recruiting NCT01852708
4 SNP-based Microdeletion and Aneuploidy RegisTry (SMART) Recruiting NCT02381457

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Anatomical Context for Chromosome 1p Duplication

Publications for Chromosome 1p Duplication

Variations for Chromosome 1p Duplication

Expression for Chromosome 1p Duplication

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Pathways for Chromosome 1p Duplication

GO Terms for Chromosome 1p Duplication

Sources for Chromosome 1p Duplication

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