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Chromosome 8
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Chromosome

Chromosome 8

Chromosome 8 is one of the 23 pairs of human chromosomes, spanning over 146 million DNA base pairs and containing approximately 700 genes, with changes in its structure or number linked to various health conditions and cancers.

Description

Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 8, one copy inherited from each parent, form one of the pairs. Chromosome 8 spans more than 146 million DNA building blocks (base pairs) and represents between 4.5 and 5 percent of the total DNA in cells.

Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 8 likely contains about 700 genes that provide instructions for making proteins. These proteins perform a variety of different roles in the body.

Health Conditions Related to Chromosomal Changes

The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 8.

8p

Frequently Asked Questions

Changes in chromosome 8 can lead to a wide range of conditions, including developmental delays, intellectual disability, distinctive facial features, and various congenital anomalies affecting organs like the heart or kidneys. Specific deletions or duplications, such as those involving the 8p region, are often linked to particular syndromes with unique sets of symptoms. Chromosome 8 changes are also implicated in certain cancers.
Conditions related to chromosome 8 can occur either spontaneously (de novo) in an individual, meaning the change was not inherited from a parent, or they can be inherited. Inheritance typically happens if a parent carries a balanced chromosomal rearrangement that, when passed on, results in an unbalanced change in the child. Genetic counseling is essential to determine the origin and recurrence risk.
Initial diagnosis often involves a karyotype or chromosomal microarray (CMA) to identify the specific deletion, duplication, or rearrangement on chromosome 8. Follow-up tests may include imaging studies (e.g., echocardiogram for heart defects, renal ultrasound for kidney issues), neurological evaluations, and developmental assessments to understand the full impact of the chromosomal change on the individual's health and development.
Management is highly individualized and focuses on addressing the specific symptoms and developmental needs. This often includes a team of specialists such as pediatricians, geneticists, neurologists, cardiologists, and developmental therapists (physical, occupational, speech). Early intervention programs, special education, and ongoing monitoring for potential health complications are crucial for optimizing outcomes.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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