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8p23 duplication reconsidered: is it a true euchromatic variant with no clinical manifestation?

Summary

Case reports (n = 8) on 8p23 duplication. Differences in phenotypic expression suggest that the observed pathology may be unrelated to the duplication; should reconsider whether true chromosomal anomaly or other genetic or environmental factors involved.

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Citation

Tsai, C. H., Graw, S. L., & McGavran, L. (2002). 8p23 duplication reconsidered: is it a true euchromatic variant with no clinical manifestation? J Med Genet, 39(10), 769-774.

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The Project 8p Foundation (Project 8p) was created in 2018 to:

  • Accelerate future treatments, not only for 8p, but potentially for other chromosome-wide diseases as well.
  • Lead with knowledge from patients. Currently, there is no cure for 8p disorders, nor is there a standard course of treatment.

The Project 8p Foundation (Project 8p) was created in 2018 to:

  • Raise transformative funding for pioneering scientific research into treatments for a complex, rare disease involving 250+ affected genes on the short arm of the 8 th chromosome (8p). Rearrangements of these genes causes significant abnormalities to the entire neurological system, thus all organs and functions of the body– with variance in cognitive functions, gross motor skills, social development and other challenges during infancy, and throughout life;
  • Empower a unified community of 8p patients and their families so they can have meaningful lives today; and
  • Accelerate future treatments, not only for 8p, but potentially for other chromosome-wide diseases as well.