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Ring chromosome 14 syndrome

Abstract

Ring chromosome 14 syndrome is a very rare human chromosome abnormality. It occurs when one or both of the telomeres that mark the ends of chromosome 14 are lost allowing the now uncapped ends to fuse together forming a ring chromosome. It causes a number of serious health issues.

Symptoms

The most common symptoms are intellectual disability and recurrent seizures developing in infancy or early childhood. Typically the seizures are resistant to treatment with anti-epileptic drugs. Other symptoms may include:

- Microcephaly

- Lymphedema

- Facial abnormalities

- Immune deficiencies

- Abnormalities of retina

- Slow growth

- Short stature

Cause

The syndrome is caused by the loss of genetic material near the end of the long arm (q) of chromosome 14 . The break that causes the telomere(s) to be lost occurs near the end of the chromosome, and is called a "constitutional ring". These rings arise spontaneously ( it is rarely inherited).Ring chromosome 14 syndrome finds itself at 14:0-107,043,718 which are the genomic coordinates.

The genetic abnormality occurs randomly in sperm or egg cells or it may occur in early embryonic growth, if it occurs during embryonic growth the ring chromosome may be present in only some of a person's cells.

Diagnosis

Diagnosis is achieved by examining the structure of the chromosomes through karyotyping; while once born, one can do the following to ascertain a diagnosis of the condition:

- MRI

- EEG

Management

In terms of the management of ring chromosome 14 syndrome, anticonvulsive medication for seizures, as well as, proper therapy to help prevent respiratory infections in the affected individual are management "measures" that can be taken.

Management | Epidemiology

Ring chromosome 14 syndrome is extremely rare, the true rate of occurrence is unknown (as it is "less than" 1 per 1,000,000), but there are at least 50 documented cases in the literature.