Ring chromosome 14 syndrome

From WikiMD's Wellnesspedia


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.[1][2][3]

Symptoms[edit | edit source]

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:[1][4]

Cause[edit | edit source]

Telomer-structure
Chr 14

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).[3][1][5][6]

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.[medical citation needed]

Diagnosis[edit | edit source]

Diagnosis is achieved by examining the structure of the chromosomes through karyotyping;[7] while once born, one can do the following to ascertain a diagnosis of the condition:[6]

Management[edit | edit source]

[8] A type of anticonvulsant(Carbamazepine)

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.[6]

Epidemiology[edit | edit source]

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.[9]

See also[edit | edit source]

References[edit | edit source]

  1. 1.0 1.1 1.2 Reference, Genetics Home. "ring chromosome 14 syndrome". Genetics Home Reference. Retrieved 2017-03-17.
  2. "Chromosome Abnormalities Fact Sheet". National Human Genome Research Institute (NHGRI). Retrieved 17 March 2017.
  3. 3.0 3.1 "OMIM Entry - # 616606 - RING CHROMOSOME 14 SYNDROME". omim.org. Retrieved 2017-03-17.
  4.  – via ScienceDirect (Subscription may be required or content may be available in libraries.)
  5. 6.0 6.1 6.2
  6. "Ring chromosome 14 - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2017-03-21.
  7. RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Ring chromosome 14". www.orpha.net. Retrieved 17 March 2017.{{cite web}}: CS1 maint: numeric names: authors list (link)

Further reading[edit | edit source]

External links[edit | edit source]

Classification
External resources

Wiki.png

Navigation: Wellness - Encyclopedia - Health topics - Disease Index‏‎ - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes

Search WikiMD


Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro) available.
Advertise on WikiMD

WikiMD is not a substitute for professional medical advice. See full disclaimer.

Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.


Contributors: Prab R. Tumpati, MD