Chromosome 13

Many genetic conditions are related to changes in particular genes on chromosome 13. This list of disorders associated with genes on chromosome 13 provides links to additional information.

Changes in the structure or number of copies of a chromosome can also cause problems with health and development. The following chromosomal conditions are associated with such changes in chromosome 13.

retinoblastoma

Retinoblastoma is caused by abnormalities of a gene called RB1, which is located on a region of the long (q) arm of chromosome 13 designated 13q14. Although most retinoblastomas are caused by mutations within the RB1 gene, a small percentage of retinoblastomas result from a deletion of the 13q14 region.

In addition to retinoblastoma, deletions of the 13q14 region may cause intellectual disability, slow growth, and characteristic facial features such as prominent eyebrows, a broad nasal bridge, a short nose, and ear abnormalities. A loss of several genes is likely responsible for these developmental problems, although researchers have not determined which other genes in the deleted region are involved.

trisomy 13

Trisomy 13 occurs when each cell in the body has three copies of chromosome 13 instead of the usual two copies. Trisomy 13 can also result from an extra copy of chromosome 13 in only some of the body's cells (mosaic trisomy 13).

In some cases, trisomy 13 occurs when part of chromosome 13 becomes attached (translocated) to another chromosome during the formation of reproductive cells (eggs and sperm) or very early in embryonic development. Affected individuals have two copies of chromosome 13, plus extra material from chromosome 13 attached to another chromosome. People with this genetic change are said to have translocation trisomy 13. The physical signs of translocation trisomy 13 may be different from those typically seen in trisomy 13 because only part of chromosome 13 is present in three copies.

Researchers believe that extra copies of some genes on chromosome 13 disrupt the course of normal development, causing the characteristic features of trisomy 13 and the increased risk of medical problems associated with this disorder.

other cancers

Changes in chromosome 13 have been associated with several types of cancer. These genetic changes are somatic, which means they are acquired during a person's lifetime and are present only in certain cells. The loss of genetic material from the middle of chromosome 13 is common in cancers of blood-forming cells (leukemias), cancers of immune system cells (lymphomas), and related diseases.

other chromosomal conditions

Partial monosomy and partial trisomy of chromosome 13 occur when a portion of the long (q) arm of this chromosome is deleted or duplicated, respectively. The effect of missing or extra chromosome material varies with the size and location of the chromosome abnormality. Affected individuals may have developmental delay, intellectual disability, low birth weight, and other physical abnormalities. Sometimes these chromosome conditions are inherited from a healthy parent. Other cases are sporadic, which means they occur in people with no history of the disorder in their family.

Geneticists use diagrams called ideograms as a standard representation for chromosomes. Ideograms show a chromosome's relative size and its banding pattern. A banding pattern is the characteristic pattern of dark and light bands that appears when a chromosome is stained with a chemical solution and then viewed under a microscope. These bands are used to describe the location of genes on each chromosome.

See How do geneticists indicate the location of a gene? in the Handbook.

You may find the following resources about chromosome 13 helpful. These materials are written for the general public.

• Additional NIH Resources - National Institutes of Health
  National Human Genome Research Institute: Chromosome Abnormalities
• MedlinePlus - Health information
  Encyclopedia: Chromosome

You may also be interested in these resources, which are designed for genetics professionals and researchers.

• Research Resources - Tools for researchers (7 links)
• PubMed - Recent literature
• Map Viewer - Genetic maps

The Handbook provides basic information about genetics in clear language.

• What is DNA?
• What is a chromosome?
• How many chromosomes do people have?
• Can changes in chromosomes affect health and development?

These links provide additional genetics resources that may be useful.

• Genetics education
• Human Genome Project
• Resources for Genetic Researchers

base pair ; cancer ; cell ; chromosome ; deletion ; developmental delay ; DNA ; egg ; embryonic ; gene ; immune system ; leukemia ; lymphoma ; monosomy ; mosaic ; mutation ; reproductive cells ; sign ; sperm ; sporadic ; translocation ; trisomy

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.