Chromosome 9p deletion

Alternate names

Deletion 9p; Monosomy 9p; 9p deletion; 9p monosomy; Partial monosomy 9p

Definition

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

Cause

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

Inheritance

• Chromosome testing of both parents can provide more information on whether the deletion was inherited.
• In about half of cases, the deletion occurs sporadically and neither parent has a chromosome abnormality.
• In the other half, one parent is found to have the same deletion (possibly with no features) or a balanced translocation (which usually does not cause any features).

Signs and symptoms

• The severity and the signs and symptoms depend on the size and location of the deletion and which genes are involved.
• Features may affect many parts of the body and may include developmental delay, low muscle tone (hypotonia), distinctive facial features, heart conditions, scoliosis, and/or genital abnormalities.

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 for chromosome 9p deletion is based on the signs and symptoms in each person.

NIH genetic and rare disease info

• NIH info on Chromosome 9p deletion

Chromosome 9p deletion is a rare disease.

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