CHROMOSOME 22 CENTRAL 
SUPPORT FOR
ALL CHROMOSOME 22 RELATED DISORDERS 

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RING 22

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Chromosome 22 Ring is a very rare disorder which is caused by the breakage of chromosome 22 at each of its ends, and then reconnecting to form a ring. The amount of genetic material that is lost when the chromosome breaks will determine how affected the child is. Some may have no apparent symptoms, and some can be significantly affected. The most common findings in this disorder are mental retardation, hypotonia (muscle weakness) and lack of coordination.

Other symptoms that have been found in some patients with Chromosome 22 Ring maybe be a smaller or larger nose than normal, large ears, high arched palate, wide-spaced eyes, drooping eyelids. In rarer cases, some patients present underdeveloped toenails, webbed finger or toes, small eyes, long eyelashes and heart defects. Click here for a more complete list of findings in Ring 22.

There is no known cause of this disorder, it usually arises spontaneously, and the parents of the affected child usually have normal chromosomes.

Read about Alec at ring 22.org

Full text article links (outside of c22c.org):  

Distinctive Phenotype in a Case of Ring Chromosome 22 with Features of 22q13.3 Deletion Syndrome

Ring Chromosome 22 Resulting in Partial monosomy in a Mentally Retarded Boy - Singapore Journal of Medicine

Ring 22 duplication/deletion mosaicism: clinical, cytogenetic, and molecular characterisation.

Molecular Characterization of Ring Chromosome 22 in a patient with severe language delay: a contribution to the refinement of the subtelomeric 22q deletion syndrome. 2002.

List of Ring 22 Reference Articles

Additional lists in French:

 


 

HEAD OFFICE - for ALL inquiries: Chromosome 22 Central, c/o Stephanie St-Pierre, 338 Spruce Street North, Timmins, Ontario, Canada P4N 6N5 tel: (705) 268-3099, EMAIL:  steph.stpierre@gmail.com

  US Head Office - for US donations: Chromosome 22 Central, c/o Murney Rinholm, 7108 Partinwood Drive, Fuquay-Varina, North Carolina, 27526  USA, tel (919) 567-8167, EMAIL: bgr@nc.rr.com

  Latin America / Spanish inquiries - Laura Munoz, Robinson Crusoe 1209, Las Condes - Santiago, Chile tel: 02-3251262 EMAIL: lauramuno@hotmail.com