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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®

Chromosome 18

Reviewed June 2014

What is chromosome 18?

Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 18, one copy inherited from each parent, form one of the pairs. Chromosome 18 spans about 78 million DNA building blocks (base pairs) and represents approximately 2.5 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 18 likely contains 200 to 300 genes that provide instructions for making proteins. These proteins perform a variety of different roles in the body.

Genes on chromosome 18 are among the estimated 20,000 to 25,000 total genes in the human genome.

Genetics Home Reference provides information about the following genes on chromosome 18:

  • ATP8B1
  • CCBE1
  • CTDP1
  • DCC
  • DSC2
  • DSG4
  • FECH
  • LAMA3
  • LPIN2
  • MC2R
  • MYO5B
  • NPC1
  • SETBP1
  • SMAD4
  • SMCHD1
  • TCF4
  • TGIF1
  • TTR

How are changes in chromosome 18 related to health conditions?

Many genetic conditions are related to changes in particular genes on chromosome 18. This list of disorders associated with genes on chromosome 18 provides links to additional information.

Genetics Home Reference provides information about the following conditions related to genes on chromosome 18:

  • arrhythmogenic right ventricular cardiomyopathy
  • autosomal recessive hypotrichosis
  • benign recurrent intrahepatic cholestasis
  • congenital cataracts, facial dysmorphism, and neuropathy
  • congenital mirror movement disorder
  • facioscapulohumeral muscular dystrophy
  • familial glucocorticoid deficiency
  • Fuchs endothelial dystrophy
  • Hennekam syndrome
  • hereditary hemorrhagic telangiectasia
  • hereditary xanthinuria
  • junctional epidermolysis bullosa
  • juvenile polyposis syndrome
  • keratoderma with woolly hair
  • laryngo-onycho-cutaneous syndrome
  • Majeed syndrome
  • microvillus inclusion disease
  • monilethrix
  • Myhre syndrome
  • Niemann-Pick disease
  • nonsyndromic holoprosencephaly
  • osteopetrosis
  • Paget disease of bone
  • Pitt-Hopkins syndrome
  • porphyria
  • primary macronodular adrenal hyperplasia
  • progressive familial intrahepatic cholestasis
  • Schinzel-Giedion syndrome
  • transthyretin amyloidosis

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 18.

18q deletion syndrome

18q deletion syndrome is caused by a deletion of genetic material from the long (q) arm of chromosome 18. This chromosomal change is written as 18q-. The signs and symptoms of 18q deletion syndrome are probably related to the loss of multiple genes in this region. Researchers are working to determine how the loss of these genes leads to the signs and symptoms of the disorder, which is characterized by neurological abnormalities including intellectual disability or learning problems and a wide variety of other features. Some affected individuals have a loss of tissue called white matter in the brain and spinal cord (leukodystrophy).

18q deletion syndrome is often categorized into two types: individuals with deletions near the end of the long arm of chromosome 18 are said to have distal 18q deletion syndrome, and those with deletions in the part of the long arm near the center of chromosome 18 are said to have proximal 18q deletion syndrome. The signs and symptoms of these two types of the condition are overlapping, with certain features being more common in one form of the disorder than in the other. For example, hearing loss and heart abnormalities are more common in people with distal 18q deletion syndrome, while seizures occur more often in people with proximal 18q deletion syndrome.

tetrasomy 18p

Tetrasomy 18p results from the presence of an abnormal extra chromosome, called an isochromosome 18p, in each cell. An isochromosome is a chromosome with two identical arms. Normal chromosomes have one long (q) arm and one short (p) arm, but isochromosomes have either two q arms or two p arms. Isochromosome 18p is a version of chromosome 18 made up of two p arms.

Cells normally have two copies of each chromosome, one inherited from each parent. In people with tetrasomy 18p, cells have the usual two copies of chromosome 18 plus an isochromosome 18p. As a result, each cell has four copies of the short arm of chromosome 18. (The word "tetrasomy" is derived from "tetra," the Greek word for "four.") The extra genetic material from the isochromosome disrupts the normal course of development, causing intellectual disability, delayed development, and the other characteristic features of this disorder.

trisomy 18

Trisomy 18 occurs when each cell in the body has three copies of chromosome 18 instead of the usual two copies, causing severe intellectual disability and multiple birth defects that are usually fatal by early childhood. (The word "trisomy" comes from "tri," the Greek word for "three.") In some cases, the extra copy of chromosome 18 is present in only some of the body's cells. This condition is known as mosaic trisomy 18.

Rarely, trisomy 18 is caused by an extra copy of only a piece of chromosome 18. This condition is known as partial trisomy 18. Partial trisomy 18 occurs when part of the long (q) arm of chromosome 18 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 18, plus the extra material from chromosome 18 attached to another chromosome. If only part of the q arm is present in three copies, the physical signs of partial trisomy 18 may be less severe than those typically seen in trisomy 18. If the entire q arm is present in three copies, individuals may be as severely affected as if they had three full copies of chromosome 18.

Researchers believe that extra copies of some genes on chromosome 18 disrupt the course of normal development, causing the characteristic features of trisomy 18 and the health problems associated with this disorder.

other chromosomal conditions

Other disorders associated with chromosome 18 occur when pieces of the short (p) arm of this chromosome are missing or when extra genetic material from chromosome 18 is present. Researchers are uncertain how missing or extra pieces of chromosome 18 lead to the specific features of these disorders.

Partial monosomy of chromosome 18p (18p-) occurs when a piece of the short arm of this chromosome is deleted. Individuals with this condition often have short stature, a round face, large ears, a shortened space between the nose and mouth (philtrum), droopy eyelids (ptosis), and mild to moderate intellectual disability. About 10 to 15 percent of people with this condition have serious abnormalities of the brain and spinal cord (central nervous system). The lifespan of individuals with partial monosomy of chromosome 18p is typically not reduced, except when severe brain abnormalities are present.

Some people have a chromosome 18 with a circular structure, which is called a ring chromosome 18. This type of chromosome is formed when breaks occur at both ends of the chromosome and the broken ends join together to form a ring. Individuals with this chromosome abnormality often have intellectual disability, an unusually small head (microcephaly), widely spaced eyes (hypertelorism), low-set ears, and speech problems. The signs and symptoms associated with ring chromosome 18 depend on how much genetic material is lost from each arm of the chromosome.

Is there a standard way to diagram chromosome 18?

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 18
See How do geneticists indicate the location of a gene? ( in the Handbook.

Where can I find additional information about chromosome 18?

You may find the following resources about chromosome 18 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 18?

cell ; central nervous system ; chromosome ; deletion ; disability ; distal ; DNA ; embryonic ; hypertelorism ; inherited ; isochromosome ; leukodystrophy ; microcephaly ; monosomy ; mosaic ; nervous system ; neurological ; philtrum ; proximal ; ptosis ; reproductive cells ; short stature ; sperm ; stature ; syndrome ; tetrasomy ; tissue ; trisomy ; white matter

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


  • Chen H, Wang N, Huo Y, Sklar P, MacKinnon DF, Potash JB, McMahon FJ, Antonarakis SE, DePaulo JR Jr, Ross CA, McInnis MG. Trapping and sequence analysis of 1138 putative exons from human chromosome 18. Mol Psychiatry. 2003 Jun;8(6):619-23. (
  • Cody JD, Carter EM, Sebold C, Heard PL, Hale DE. A gene dosage map of Chromosome 18: a map with clinical utility. Genet Med. 2009 Nov;11(11):778-82. doi: 10.1097/GIM.0b013e3181b6573d. (
  • Ensembl Human Map View (;r=18:1-78077248)
  • Gilbert F. Disease genes and chromosomes: disease maps of the human genome. Chromosome 18. Genet Test. 1997;1(1):69-71. (
  • Linnankivi T, Tienari P, Somer M, Kähkönen M, Lönnqvist T, Valanne L, Pihko H. 18q deletions: clinical, molecular, and brain MRI findings of 14 individuals. Am J Med Genet A. 2006 Feb 15;140(4):331-9. (
  • Map Viewer: Genes on Sequence (,ugHs,genes&CHR=18)
  • Nusbaum C, Zody MC, Borowsky ML, Kamal M, Kodira CD, Taylor TD, Whittaker CA, Chang JL, Cuomo CA, Dewar K, FitzGerald MG, Yang X, Abouelleil A, Allen NR, Anderson S, Bloom T, Bugalter B, Butler J, Cook A, DeCaprio D, Engels R, Garber M, Gnirke A, Hafez N, Hall JL, Norman CH, Itoh T, Jaffe DB, Kuroki Y, Lehoczky J, Lui A, Macdonald P, Mauceli E, Mikkelsen TS, Naylor JW, Nicol R, Nguyen C, Noguchi H, O'Leary SB, O'Neill K, Piqani B, Smith CL, Talamas JA, Topham K, Totoki Y, Toyoda A, Wain HM, Young SK, Zeng Q, Zimmer AR, Fujiyama A, Hattori M, Birren BW, Sakaki Y, Lander ES. DNA sequence and analysis of human chromosome 18. Nature. 2005 Sep 22;437(7058):551-5. Erratum in: Nature. 2005 Dec 1;438(7068):696. O'Neill, Keith [added]. (
  • Schaub RL, Reveles XT, Baillargeon J, Leach RJ, Cody JD. Molecular characterization of 18p deletions: evidence for a breakpoint cluster. Genet Med. 2002 Jan-Feb;4(1):15-9. (
  • Sebold C, Roeder E, Zimmerman M, Soileau B, Heard P, Carter E, Schatz M, White WA, Perry B, Reinker K, O'Donnell L, Lancaster J, Li J, Hasi M, Hill A, Pankratz L, Hale DE, Cody JD. Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals. Am J Med Genet A. 2010 Sep;152A(9):2164-72. doi: 10.1002/ajmg.a.33597. (
  • Semrud-Clikeman M, Thompson NM, Schaub BL, Leach R, Hester A, Hale DE, Cody JD. Cognitive ability predicts degree of genetic abnormality in participants with 18q deletions. J Int Neuropsychol Soc. 2005 Sep;11(5):584-90. (
  • Stankiewicz P, Brozek I, Hélias-Rodzewicz Z, Wierzba J, Pilch J, Bocian E, Balcerska A, Wozniak A, Kardaś I, Wirth J, Mazurczak T, Limon J. Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18. Am J Med Genet. 2001 Jul 1;101(3):226-39. (
  • Turleau C. Monosomy 18p. Orphanet J Rare Dis. 2008 Feb 19;3:4. doi: 10.1186/1750-1172-3-4. Review. (
  • UCSC Genome Browser: Statistics (
  • Wester U, Bondeson ML, Edeby C, Annerén G. Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation. Am J Med Genet A. 2006 Jun 1;140(11):1164-71. (


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? ( in the Handbook.

Reviewed: June 2014
Published: February 8, 2016