Ring Chromosome 14

Symptoms, Doctors, Treatments, Advances & More

Ring chromosome 14 is a rare chromosome abnormality in which the ends (arms) of chromosome 14 join together to form a ring shape. Signs and symptoms of Ring 14 syndrome vary from person to person but often include distinctive facial features, developmental delay and intellectual disability, autism spectrum disorder, intractable (hard to control) epilepsy, and occasional eye and vision abnormalities. Severity and frequency of seizures may improve over time. Other signs and symptoms may include a small head size (microcephaly), low muscle tone (hypotonia), scoliosis, and increased susceptibility to infections. Ring chromosomes almost always occur sporadically (by chance), occurring for the first time in people with no family history of chromosome disorders. In these cases, it occurs as a random event when egg or sperm cells are formed, or very soon after the egg and sperm join together. It is believed that several important genes near the end of the long arm of chromosome 14 are lost (deleted) when the ring forms, likely leading to some of the features of r(14) syndrome.