Ring chromosome 9

Other Names: Chromosome 9 ring; Ring 9; R9 Ring chromosome 9 is a very rare chromosome abnormality in which the ends of chromosome 9 join together to form a ring shape. The resulting ring may be missing genes, or it may contain extra copies of genes.

Signs and symptoms

The severity and symptoms associated with ring chromosome 9 vary from person to person. Signs and symptoms that may be present in a person with ring chromosome 9 include slow growth and short stature, learning disabilities, small head size, distinctive facial features, low muscle tone (hypotonia), skeletal abnormalities, and/or other birth defects involving various parts of the body. However, people with ring chromosome 9 can be generally healthy and have no major birth defects.

Inheritance

Ring chromosome 9 typically is not inherited and occurs sporadically, during the formation of egg or sperm cells or shortly after the egg and sperm join together. Occasionally, one of the parents has a chromosome abnormality involving chromosome 9. Chromosome testing of both parents can help determine whether the ring chromosome was inherited and whether future children have an increased chance to have a chromosome abnormality.

Treatment

Treatment for ring chromosome 9 depends on the signs and symptoms present in each person.

NIH genetic and rare disease info

• NIH info on Ring chromosome 9

Ring chromosome 9 is a rare disease.

Ring chromosome 9 Resources
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