Chromosome 8p Day Date in the current year: August 8, 2025

Chromosome 8 is one of the 23 pairs of human chromosomes, representing between 4.5 and 5% of the total DNA in human cells. This chromosome carries genes that are crucial for important biological functions, including brain development, immune response, and cellular signaling. Abnormalities in this chromosome are linked to multiple genetic conditions that can affect various organs and systems in the body.

Monosomy 8p, also known as chromosome 8p, is a disorder caused by the deletion of a portion of the short arm (p) of chromosome 8. This deletion typically occurs due to a spontaneous error during early embryonic development. Monosomy 8p is extremely rare, affecting only about 350 people worldwide. It appears to affect males and females equally.

The signs and symptoms of monosomy 8p can vary greatly from patient to patient. Most individuals with the disorder have growth delays in utero and after birth. Other common signs and symptoms include:

• Mild intellectual disability
• Autism spectrum disorder
• Behavioral problems
• Speech difficulties
• Mild craniofacial malformations: microcephaly (a small head), a short and broad nose, a low and wide nasal bridge, a small jaw (micrognathia), epicanthal folds
• Breathing difficulties
• Epilepsy
• Sensory processing disorders
• Agenesis of the corpus callosum: the complete or partial absence of the band of white matter that connects the two hemispheres of the brain, which can result in cognitive disabilities and social difficulties
• Congenital heart defects
• Genital defects in affected males

The treatment for chromosome 8p is symptomatic and may require a team of medical professionals, including pediatricians, cardiologists, orthopedists, and surgeons. If a patient has a congenital heart defect, treatment may include medication and/or surgery. Plastic surgery may be recommended to correct craniofacial malformations or genital defects.

Children with chromosome 8p may benefit from early intervention services, including physical and speech therapy, special education, and other medical and social services. Genetic counseling is also beneficial for families of affected children.

While some patients may achieve partial developmental milestones with early intervention and supportive care, many require ongoing medical and educational support. The prognosis for patients with the disorder varies from case to case due to variability in symptoms and severity.

Chromosome 8p Day was created to raise awareness of this rare disorder, support affected families, and advocate for better access to diagnosis, care, and further research into the condition. You can get involved by learning more about monosomy 8p and sharing what you’ve learned with others, donating to an organization that supports patients or funds research, and spreading the word on social media using the hashtag #Chromosome8pDay.