Chromosome 9q deletion

Alternate names

Deletion 9q; Monosomy 9q; 9q deletion; 9q monosomy; Partial monosomy 9q

Definition

Chromosome 9q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 9.

Cause

This condition occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 9.

Inheritance

• Chromosome testing of both parents can provide more information on whether or not the deletion was inherited.
• In most cases, parents do not have any chromosomal anomaly.
• 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 9q 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 9q deletion

Chromosome 9q deletion is a rare disease.

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