Chromosome 5p deletion

Alternate names

Deletion 5p; Monosomy 5p; 5p deletion; 5p monosomy; Partial monosomy 5p

Definition

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.

File:Single Chromosome Mutations.svg

1 deletion, 2 duplication and 3 inversion.

File:Deletion of chromosome section.png

Deletion of chromosome section

File:Human chromosome 5 ideogram.svg

Cause

This condition occurs when there is a missing (deleted) copy of genetic material on the short arm (p) of chromosome 5.

Inheritance

• 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

• 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

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

Treatment is based on the signs and symptoms present in each person.

NIH genetic and rare disease info

• NIH info on Chromosome 5p deletion

Chromosome 5p deletion is a rare disease.