Chromosome 5p deletion
Alternate names[edit | edit source]
Deletion 5p; Monosomy 5p; 5p deletion; 5p monosomy; Partial monosomy 5p
Definition[edit | edit source]
Chromosome 5p deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the short arm (p) of chromosome 5.
Cause[edit | edit source]
This condition occurs when there is a missing (deleted) copy of genetic material on the short arm (p) of chromosome 5.
Inheritance[edit | edit source]
- However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material.
- The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion.
Signs and symptoms[edit | edit source]
- The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved.
- Features that often occur in people with chromosome 5p deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features.
Diagnosis[edit | edit source]
Chromosome disorders may be suspected in people who have developmental delays, intellectual disabilities and/or physical abnormalities.
Several types of genetic tests can identify chromosome disorders:
- Karyotyping
- Microarray (also called array CGH)
- Fluorescence in situ hybridization (FISH)
Treatment[edit | edit source]
Treatment is based on the signs and symptoms present in each person.
NIH genetic and rare disease info[edit source]
Chromosome 5p deletion is a rare disease.
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