Ring chromosome 15
Medical condition / From Wikipedia, the free encyclopedia
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Ring chromosome 15 (sometimes denoted as r15) is a condition that arises when chromosome 15 fuses to form a ring chromosome. Usually, ring chromosome 15 forms due to the modification or deletion of genetic information on chromosome 15 in the preliminary stages of embryonic development, but it can rarely also be inherited.[1]
Ring chromosome 15 | |
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Other names | Ring chromosome 15 syndrome, Ring 15 |
Diagram of the formation of a ring chromosome | |
Specialty | Medical genetics |
Duration | Lifelong |
Causes | Deletion of genetic information from chromosome 15 |
Treatment | Supportive |
Frequency | Rare |
All chromosomes have the capacity to form ring chromosomes. The symptoms and severity largely depend on the amount and location of the genetic information lost.[2] If the ends of the chromosome fuse with no loss of genetic material, the individual retains the normal phenotype with relatively slight differences. However, evidence suggests that when there is deletion of genetic information at the distal unstable ends where the subtelomeric structures fuse, syndromes associated with that particular chromosome arise.[3]
Treatment for ring chromosome 15 predominantly targets the management of these symptoms rather than the chromosome ring itself.