Children's Hospital Colorado
Neurogenetic Pediatric Clinic

Chromosome 8p Rearrangement

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What is chromosome 8p rearrangement?

Chromosome 8p rearrangement is a rare genetic condition that causes neurological and developmental delays. This condition can cause intellectual disabilities, epilepsy, autism, congenital heart defects, malformations of the corpus collosum (the part of the brain that connects the right and left hemispheres) and sensory processing disorders.

Children with chromosome 8p rearrangements benefit from care that helps manage their symptoms, reach milestones and improve their development and quality of life.

What causes chromosome 8p rearrangement?

Chromosome 8p rearrangement is typically caused by a spontaneous genetic change in the child’s DNA. There’s a portion of the short arm of chromosome 8 (8p) that makes this piece of the chromosome more prone to imbalance. For this reason, we can see a variety of chromosomal differences affecting chromosome 8p, including: 8p deletion, 8p duplication, 8p inverted duplication/deletion and others. Chromosome 8p rearrangements aren’t caused by illness or exposures to substances during or after pregnancy and aren’t typically inherited from a parent.

Who gets chromosome 8p rearrangement?

A child is born with changes in their 8p chromosome, with symptoms showing up in infancy. This syndrome occurs equally in boys and girls and has only been diagnosed in about 550 patients worldwide.

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