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Can changes in the structure of chromosomes affect health and development?

Changes that affect the structure of chromosomes can cause problems with growth, development, and function of the body's systems. These changes can affect many genes along the chromosome and disrupt the proteins made from those genes.

Structural changes can occur during the formation of egg or sperm cells, in early fetal development, or in any cell after birth. Pieces of DNA can be rearranged within one chromosome or transferred between two or more chromosomes. The effects of structural changes depend on their size and location, whether gene function is interrupted, and whether any genetic material is gained or lost. Some changes cause health problems, while others may have no effect on a person's health.

Changes in chromosome structure include the following:

Translocations: A translocation occurs when a piece of one chromosome breaks off and attaches to another chromosome. This type of rearrangement is described as balanced if no genetic material is gained or lost in the cell. If there is a gain or loss of genetic material, the translocation is described as unbalanced.
Deletions: Deletions occur when a chromosome breaks and some genetic material is lost. Deletions can be large or small, and can occur anywhere along a chromosome.
Duplications: Duplications occur when part of a chromosome is abnormally copied (duplicated). This type of chromosomal change results in extra copies of genetic material from the duplicated segment.
Inversions: An inversion occurs when a chromosome breaks in two places; the resulting piece of DNA is reversed and re-inserted into the chromosome. Genetic material may or may not be lost as a result of the chromosome breaks. An inversion that includes the chromosome's constriction point (centromere) is called a pericentric inversion. An inversion that occurs in the long (q) arm or short (p) arm and does not involve the centromere is called a paracentric inversion.
Isochromosomes: An isochromosome is a chromosome with two identical arms. Instead of one q arm and one p arm, an isochromosome has two q arms or two p arms. As a result, these abnormal chromosomes have an extra copy of some genes and are lacking copies of genes on the missing arm.
Dicentric chromosomes: Unlike normal chromosomes, which have one centromere, a dicentric chromosome contains two centromeres. Dicentric chromosomes result from the abnormal fusion of two chromosome pieces, each of which includes a centromere. These structures are unstable and often involve a loss of some genetic material.
Ring chromosomes: Ring chromosomes usually occur when a chromosome breaks in two places, typically at the ends of the p and q arms, and then the arms fuse together to form a circular structure. The ring may or may not include the centromere, depending on where on the chromosome the breaks occur. In many cases, genetic material near the ends of the chromosome is lost.

Many cancer cells also have changes in their chromosome structure. These changes are not inherited; they occur in somatic cells (cells other than eggs or sperm) during the formation or progression of a cancerous tumor.

Topics in the Variants and Health chapter

Other chapters in Help Me Understand Genetics

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.