Chromosome 6p deletion

Alternate names

Deletion 6p; Monosomy 6p; 6p deletion; 6p monosomy; Partial monosomy 6p

Definition

Chromosome 6p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 6.

Deletion of chromosome section

Cause

This condition occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 6.

Inheritance

Chromosome 6p deletion can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation.

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 6p 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 6p deletion

Chromosome 6p deletion is a rare disease.

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