8p Inverted Duplication & Deletion – rarechromo.org

Inverted duplication and deletion of 8p, known as inv dup del 8p, is a rare genetic condition that is estimated to occur once in every 10,000-30,000 births. In people with inv dup del 8p, there is both an extra copy (duplication) of part of the genetic material that makes up one of the body’s chromosomes – chromosome 8 – and a missing copy (deletion) of another part of chromosome 8.
As with other chromosome disorders, having an extra piece and missing piece of genetic material may cause birth defects, affect the development and intellectual abilities of a child and be associated with a range of other individual features, to a varying degree. The majority of cases of inv dup del 8p have not been associated with any life-threatening conditions (García-Santiago 2015; Akkurt 2017).