Chromosome 15q trisomy

Chromosome 15q trisomy is an extremely rare genetic disorder in which there is an excess copy of the long ("q") arm of human chromosome 15.

Chromosome 15q trisomy
Other namesDistal Duplication 15q, Partial Duplication 15q Syndrome

Signs and symptoms

The disorder is primarily characterized by growth abnormalities, which range from growth retardation to accelerated growth, intellectual disability, and distinctive malformations of the head and face. Additional abnormalities may involve malformation of the skeleton, spine and neck; fingers and/or toes; genitals (particularly in males); and, in some cases, heart problems.[1][2]

Treatment

The condition is incurable and treatment is based on alleviating symptoms.[1]

Epidemiology

C15 trisomy affects twice as many males as females. Less than 50 cases have been reported.[1]

See also

References
  1. "Chromosome 15, Distal Trisomy 15q". NORD (National Organization for Rare Disorders). Retrieved 23 April 2019.
  2. "Chromosome 15q duplication | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 23 April 2019.
Classification
External resources


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