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What is a chromosome?
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Basics

What is a chromosome?

Chromosomes are thread-like structures located within the nucleus of each cell that package DNA around proteins to support its structure.

Overview

In the nucleus of each cell, the DNA molecule is packaged into thread-like structures called chromosomes. Each chromosome is made up of DNA tightly coiled many times around proteins called histones that support its structure.

Structure and Visibility

Chromosomes are not visible in the cell’s nucleus—not even under a microscope—when the cell is not dividing. However, the DNA that makes up chromosomes becomes more tightly packed during cell division and is then visible under a microscope. Most of what researchers know about chromosomes was learned by observing chromosomes during cell division.

Each chromosome has a constriction point called the centromere, which divides the chromosome into two sections, or “arms.”

  • The short arm of the chromosome is labeled the “p arm.”
  • The long arm of the chromosome is labeled the “q arm.”

The location of the centromere on each chromosome gives the chromosome its characteristic shape and can be used to help describe the location of specific genes.

Frequently Asked Questions

The centromere divides a chromosome into a short (p) and long (q) arm, and many disease‑associated genes are described by their arm and band location (e.g., 7q31). Knowing the centromere’s position helps laboratories target the correct region when using FISH probes or designing sequencing panels, and it aids clinicians in interpreting which genes might be affected by a deletion or duplication.
Doctors usually order a karyotype, which looks at the number, size, and shape of chromosomes from a blood sample. More detailed tests include fluorescence in‑situ hybridization (FISH) for specific regions, chromosomal microarray analysis for sub‑microscopic deletions or duplications, and next‑generation sequencing‑based karyotyping for very small changes.
Typical clues include low muscle tone, a flat facial profile, upward‑slanting eyes, a single deep crease across the palm, and a small head. However, many features overlap with other conditions, so a definitive diagnosis requires genetic testing (karyotype or chromosomal microarray).
Routine lifestyle choices (diet, exercise, stress) do not alter the overall structure of chromosomes. However, exposure to high‑dose radiation, certain chemicals, or viral infections can cause DNA damage that may lead to mutations or, rarely, structural chromosome breaks. Most chromosome changes seen in disease are inherited or occur spontaneously during cell division.
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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