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Genetics Home Reference: your guide to understanding genetic conditions
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Chromosome 13

Reviewed July 2013

What is chromosome 13?

Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 13, one copy inherited from each parent, form one of the pairs. Chromosome 13 is made up of about 115 million DNA building blocks (base pairs) and represents between 3.5 and 4 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 13 likely contains 300 to 400 genes that provide instructions for making proteins. These proteins perform a variety of different roles in the body.

Genes on chromosome 13 are among the estimated 20,000 to 25,000 total genes in the human genome.

Genetics Home Reference includes these genes on chromosome 13:

  • ATP7B
  • B3GALTL
  • BRCA2
  • CLN5
  • COL4A1
  • EDNRB
  • FLT3
  • FREM2
  • GJB2
  • GJB6
  • ITM2B
  • KL
  • LPAR6
  • PCCA
  • POLR1D
  • RB1
  • RNASEH2B
  • SACS
  • SGCG
  • SLC25A15
  • SLITRK1
  • SPG20
  • SUCLA2
  • ZIC2
  • ZMYM2

How are changes in chromosome 13 related to health conditions?

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.

Genetics Home Reference includes these conditions related to genes on chromosome 13:

  • Aicardi-Goutieres syndrome
  • autosomal recessive hypotrichosis
  • autosomal recessive spastic ataxia of Charlevoix-Saguenay
  • Bart-Pumphrey syndrome
  • bladder cancer
  • breast cancer
  • Clouston syndrome
  • COL4A1-related brain small-vessel disease
  • core binding factor acute myeloid leukemia
  • cytogenetically normal acute myeloid leukemia
  • familial porencephaly
  • Fanconi anemia
  • Fraser syndrome
  • hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
  • hereditary cerebral amyloid angiopathy
  • Hirschsprung disease
  • hyperphosphatemic familial tumoral calcinosis
  • hystrix-like ichthyosis with deafness
  • infantile neuronal ceroid lipofuscinosis
  • juvenile Batten disease
  • keratitis-ichthyosis-deafness syndrome
  • late-infantile neuronal ceroid lipofuscinosis
  • limb-girdle muscular dystrophy
  • 8p11 myeloproliferative syndrome
  • nonsyndromic deafness
  • nonsyndromic holoprosencephaly
  • ornithine translocase deficiency
  • palmoplantar keratoderma with deafness
  • Peters plus syndrome
  • propionic acidemia
  • retinoblastoma
  • succinate-CoA ligase deficiency
  • Tourette syndrome
  • Treacher Collins syndrome
  • Troyer syndrome
  • Vohwinkel syndrome
  • Waardenburg syndrome
  • Wilson disease

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.

8p11 myeloproliferative syndrome

A rearrangement (translocation) of genetic material involving chromosome 13 has been identified in most people with a rare blood cancer called 8p11 myeloproliferative syndrome. This condition is characterized by an increased number of white blood cells (myeloproliferative disorder) and the development of lymphoma, a blood-related cancer that causes tumor formation in the lymph nodes. The myeloproliferative disorder usually develops into another form of blood cancer called acute myeloid leukemia. 8p11 myeloproliferative syndrome most commonly results from a translocation between chromosome 13 and chromosome 8, written as t(8;13)(p11;q12). This genetic change fuses part of the ZMYM2 gene on chromosome 13 with part of the FGFR1 gene on chromosome 8. The translocation occurs only in cancer cells.

The protein produced from the normal FGFR1 gene can turn on cellular signaling that helps the cell respond to its environment, for example by stimulating cell growth. The protein produced from the fused ZMYM2-FGFR1 gene leads to constant FGFR1 signaling. The uncontrolled signaling promotes continuous cell growth and division, leading to cancer.

retinoblastoma

Retinoblastoma, a cancer of the light-sensing tissue at the back of the eye (the retina) that affects mostly children, is caused by abnormalities of a gene called RB1. This gene 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 other related cancers.

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.

Is there a standard way to diagram chromosome 13?

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.

Ideogram of chromosome 13
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about chromosome 13?

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

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

What glossary definitions help with understanding chromosome 13?

acute ; acute myeloid leukemia ; cancer ; cell ; chromosome ; deletion ; developmental delay ; disability ; DNA ; embryonic ; gene ; immune system ; inherited ; leukemia ; lymph ; lymphoma ; monosomy ; mosaic ; myeloid ; protein ; rearrangement ; reproductive cells ; retina ; sperm ; syndrome ; tissue ; translocation ; trisomy ; tumor ; white blood cells

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Baud O, Cormier-Daire V, Lyonnet S, Desjardins L, Turleau C, Doz F. Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion. Clin Genet. 1999 Jun;55(6):478-82. (http://www.ncbi.nlm.nih.gov/pubmed/10450867?dopt=Abstract)
  • Dunham A, Matthews LH, Burton J, Ashurst JL, Howe KL, Ashcroft KJ, Beare DM, Burford DC, Hunt SE, Griffiths-Jones S, Jones MC, Keenan SJ, Oliver K, Scott CE, Ainscough R, Almeida JP, Ambrose KD, Andrews DT, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Bannerjee R, Barlow KF, Bates K, Beasley H, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burrill W, Carder C, Carter NP, Chapman JC, Clamp ME, Clark SY, Clarke G, Clee CM, Clegg SC, Cobley V, Collins JE, Corby N, Coville GJ, Deloukas P, Dhami P, Dunham I, Dunn M, Earthrowl ME, Ellington AG, Faulkner L, Frankish AG, Frankland J, French L, Garner P, Garnett J, Gilbert JG, Gilson CJ, Ghori J, Grafham DV, Gribble SM, Griffiths C, Hall RE, Hammond S, Harley JL, Hart EA, Heath PD, Howden PJ, Huckle EJ, Hunt PJ, Hunt AR, Johnson C, Johnson D, Kay M, Kimberley AM, King A, Laird GK, Langford CJ, Lawlor S, Leongamornlert DA, Lloyd DM, Lloyd C, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M, McLaren SJ, McMurray A, Milne S, Moore MJ, Nickerson T, Palmer SA, Pearce AV, Peck AI, Pelan S, Phillimore B, Porter KM, Rice CM, Searle S, Sehra HK, Shownkeen R, Skuce CD, Smith M, Steward CA, Sycamore N, Tester J, Thomas DW, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West AP, Whitehead SL, Willey DL, Wilming L, Wray PW, Wright MW, Young L, Coulson A, Durbin R, Hubbard T, Sulston JE, Beck S, Bentley DR, Rogers J, Ross MT. The DNA sequence and analysis of human chromosome 13. Nature. 2004 Apr 1;428(6982):522-8. (http://www.ncbi.nlm.nih.gov/pubmed/15057823?dopt=Abstract)
  • Ensembl Human Map View: Chromosome 13 (http://www.ensembl.org/Homo_sapiens/Location/Chromosome?chr=13;r=13:1-114364328)
  • Gilbert F. Chromosome 13. Genet Test. 2000;4(1):85-94. (http://www.ncbi.nlm.nih.gov/pubmed/10794368?dopt=Abstract)
  • Hall HE, Chan ER, Collins A, Judis L, Shirley S, Surti U, Hoffner L, Cockwell AE, Jacobs PA, Hassold TJ. The origin of trisomy 13. Am J Med Genet A. 2007 Oct 1;143A(19):2242-8. (http://www.ncbi.nlm.nih.gov/pubmed/17853475?dopt=Abstract)
  • Jackson CC, Medeiros LJ, Miranda RN. 8p11 myeloproliferative syndrome: a review. Hum Pathol. 2010 Apr;41(4):461-76. doi: 10.1016/j.humpath.2009.11.003. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20226962?dopt=Abstract)
  • Kivelä T, Tuppurainen K, Riikonen P, Vapalahti M. Retinoblastoma associated with chromosomal 13q14 deletion mosaicism. Ophthalmology. 2003 Oct;110(10):1983-8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14522775?dopt=Abstract)
  • Map Viewer: Genes on Sequence (http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?ORG=human&MAPS=ideogr,ugHs,genes&CHR=13)
  • UCSC Genome Browser: Statistics (http://genome.cse.ucsc.edu/goldenPath/stats.html)
  • Xiao S, Nalabolu SR, Aster JC, Ma J, Abruzzo L, Jaffe ES, Stone R, Weissman SM, Hudson TJ, Fletcher JA. FGFR1 is fused with a novel zinc-finger gene, ZNF198, in the t(8;13) leukaemia/lymphoma syndrome. Nat Genet. 1998 Jan;18(1):84-7. (http://www.ncbi.nlm.nih.gov/pubmed/9425908?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: July 2013
Published: October 20, 2014