National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Chromosome 9q deletion


Other Names:
Deletion 9q; Monosomy 9q; 9q deletion; Deletion 9q; Monosomy 9q; 9q deletion; 9q monosomy; Partial monosomy 9q See More
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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. 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.[1][2] 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. Treatment is based on the signs and symptoms present in each person.

This page is meant to provide general information about 9q deletions. You can contact GARD if you have questions about a specific deletion on chromosome 9. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders.
Last updated: 4/14/2016

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Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • PubMed is a searchable database of medical literature and lists journal articles that discuss Chromosome 9q deletion. Click on the link to view a sample search on this topic.

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  1. Haniffa MA, Leech SN, Lynch SA, Simpson NB. NBCCS secondary to an interstitial chromosome 9q deletion. Clin Exp Dermatol. September 2004; 29(5):542-544.
  2. Chromosome 9. Genetics Home Reference. September 2012; https://ghr.nlm.nih.gov/chromosome/9#.