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.
What are the signs and symptoms of chromosome 8p rearrangement?
Signs and symptoms of chromosome 8 rearrangement include:
- Developmental delays
- Mild to severe learning disabilities
- Behavioral issues
- Abnormal muscle tone
- Epilepsy (less common)
What tests do we use to diagnose chromosome 8p rearrangement?
Chromosome 8p shares signs and symptoms with many other disorders, so children can only be diagnosed through a genetic test. This involves collecting a blood, saliva or cheek swab sample and testing it to detect changes in chromosome 8p.
Sometimes, providers can diagnose children with chromosome 8p rearrangements using advanced genetic testing methods, but they’re less common.
How do we treat chromosome 8p rearrangement?
Because of its genetic nature, there’s no cure for chromosome 8p disorder. At Children's Hospital Colorado, our treatments help relieve your child's symptoms and ensure the best possible quality of life. We see children of all ages with chromosome 8p rearrangement in our multidisciplinary Neurogenetic Pediatric Clinic.
Some treatment approaches include:
- Management recommendations for sleep-related concerns
- Behavioral therapy
- Academic support
- Therapies
- Modifications to existing care plans
- Recommendations for equipment services such as wheelchairs
Why choose us for treatment of chromosome 8p rearrangement?
A genetic diagnosis can be scary and confusing, but our specialists are experts in creating individualized care plans for every child with chromosome 8p disorder.
In our multidisciplinary Neurogenetic Pediatric Clinic, we provide recommendations and disorder-specific information to support your child and your regular providers. With all our doctors available in one clinic, your child receives comprehensive care with every visit. You may see neurologists, genetic counselors, and physical, occupational or speech therapists. Our care may include behavioral recommendations, academic support, management of sleep or feeding concerns and advice on equipment and other services.
Helpful resources
Project 8p works to improve care, advance research and strengthen the community for 8p-related conditions.