Trisomy 5p
Description
Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit.
Clinical Features
Top most frequent phenotypes and symptoms related to Trisomy 5p
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
- Scoliosis
- Hypertelorism
- Ptosis
- Macrocephaly
- Frontal bossing
And another 14 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Trisomy 5p Is also known as trisomy of the short arm of chromosome 5, duplication of the short arm of chromosome 5, duplication 5p.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Sources and references
You can check the following sources for additional information.
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