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Genetics Home Reference: your guide to understanding genetic conditions
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Chromosome 12

Reviewed June 2009

What is chromosome 12?

Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 12, one copy inherited from each parent, form one of the pairs. Chromosome 12 spans about 132 million DNA building blocks (base pairs) and represents between 4 percent and 4.5 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 12 likely contains between 1,200 and 1,400 genes. These genes perform a variety of different roles in the body.

Genes on chromosome 12 are among the estimated 20,000 to 25,000 total genes in the human genome.

Genetics Home Reference includes these genes on chromosome 12:

  • AAAS
  • ACADS
  • ACVRL1
  • AMHR2
  • AQP2
  • ATN1
  • ATP2A2
  • ATP6V0A2
  • ATXN2
  • BBS10
  • CACNA1C
  • CEP290
  • COL2A1
  • DCN
  • DHH
  • EIF2B1
  • FGD4
  • FGF23
  • GDF3
  • GNPTAB
  • GNS
  • HAL
  • HPD
  • HSPB8
  • IRAK4
  • ISCU
  • KCNA1
  • KIF21A
  • KRAS
  • KRT1
  • KRT5
  • KRT6A
  • KRT6B
  • KRT81
  • KRT83
  • KRT86
  • LDHB
  • LRRK2
  • MLL2
  • MMAB
  • MVK
  • MYBPC1
  • MYO1A
  • PAH
  • PKP2
  • PPP1R12A
  • PRICKLE1
  • PRPH
  • PTPN11
  • RPS26
  • SCNN1A
  • TBX5
  • TNFRSF1A
  • TRPV4
  • VWF
  • WNK1

How are changes in chromosome 12 related to health conditions?

Many genetic conditions are related to changes in particular genes on chromosome 12. This list of disorders associated with genes on chromosome 12 provides links to additional information.

Genetics Home Reference includes these conditions related to genes on chromosome 12:

  • achondrogenesis
  • amyotrophic lateral sclerosis
  • arrhythmogenic right ventricular cardiomyopathy
  • Bardet-Biedl syndrome
  • cardiofaciocutaneous syndrome
  • Charcot-Marie-Tooth disease
  • coloboma
  • congenital fibrosis of the extraocular muscles
  • congenital stromal corneal dystrophy
  • cutis laxa
  • Czech dysplasia
  • Darier disease
  • dentatorubral-pallidoluysian atrophy
  • Diamond-Blackfan anemia
  • distal arthrogryposis type 1
  • distal hereditary motor neuropathy, type II
  • epidermolysis bullosa simplex
  • epidermolytic hyperkeratosis
  • episodic ataxia
  • hereditary hemorrhagic telangiectasia
  • hereditary hypophosphatemic rickets
  • hereditary sensory and autonomic neuropathy type II
  • histidinemia
  • Holt-Oram syndrome
  • hypochondrogenesis
  • IRAK-4 deficiency
  • Joubert syndrome
  • Kabuki syndrome
  • Klippel-Feil syndrome
  • Kniest dysplasia
  • lactate dehydrogenase deficiency
  • Leber congenital amaurosis
  • leukoencephalopathy with vanishing white matter
  • metatropic dysplasia
  • methylmalonic acidemia
  • mevalonate kinase deficiency
  • microphthalmia
  • monilethrix
  • mucolipidosis II alpha/beta
  • mucolipidosis III alpha/beta
  • mucopolysaccharidosis type III
  • multiple lentigines syndrome
  • myopathy with deficiency of iron-sulfur cluster assembly enzyme
  • nephrogenic diabetes insipidus
  • nonsyndromic deafness
  • Noonan syndrome
  • pachyonychia congenita
  • Parkinson disease
  • persistent Müllerian duct syndrome
  • phenylketonuria
  • platyspondylic lethal skeletal dysplasia, Torrance type
  • PRICKLE1-related progressive myoclonus epilepsy with ataxia
  • pseudohypoaldosteronism type 1
  • pseudohypoaldosteronism type 2
  • short-chain acyl-CoA dehydrogenase deficiency
  • spinocerebellar ataxia type 2
  • spondyloepimetaphyseal dysplasia, Strudwick type
  • spondyloepiphyseal dysplasia congenita
  • spondyloperipheral dysplasia
  • Stickler syndrome
  • Swyer syndrome
  • Timothy syndrome
  • triple A syndrome
  • tumor necrosis factor receptor-associated periodic syndrome
  • tyrosinemia
  • von Willebrand 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 12.

cancers

Changes in chromosome 12 have been identified in 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. For example, rearrangements (translocations) of genetic material between chromosome 12 and other chromosomes are often found in certain cancers of blood-forming cells (leukemias) and cancers of immune system cells (lymphomas).

Translocations involving chromosome 12 have also been found in solid tumors such as lipomas and liposarcomas, which are made up of fatty tissue. In these tumors, the most common chromosome 12 rearrangements involve the long (q) arm in a region designated q13-q15. Abnormalities of chromosome 12 have been identified in at least two other rare tumors, angiomatoid fibrous histiocytomas and clear cell sarcomas. Angiomatoid fibrous histiocytomas occur primarily in adolescents and young adults and are usually found in the arms and legs (extremities). Clear cell sarcomas occur most often in young adults and tend to be associated with tendons and related structures called aponeuroses.

Researchers are working to determine which genes on chromosome 12 are disrupted by translocations, and they are studying how these chromosomal changes could contribute to the uncontrolled growth and division of tumor cells.

Pallister-Killian mosaic syndrome

Pallister-Killian mosaic syndrome is usually caused by the presence of an abnormal extra chromosome called an isochromosome 12p or i(12p). 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 12p is a version of chromosome 12 made up of two p arms.

Cells normally have two copies of each chromosome, one inherited from each parent. In people with Pallister-Killian mosaic syndrome, cells have the two usual copies of chromosome 12, but some cells also have the isochromosome 12p. These cells have a total of four copies of all the genes on the p arm of chromosome 12. The extra genetic material from the isochromosome disrupts the normal course of development, causing the characteristic features of this disorder.

Although Pallister-Killian mosaic syndrome is usually caused by an isochromosome 12p, other, more complex chromosomal changes involving chromosome 12 are responsible for the disorder in rare cases.

other chromosomal conditions

Other changes in the number or structure of chromosome 12 can have a variety of effects on health and development. These effects include intellectual disability, slow growth, distinctive facial features, weak muscle tone (hypotonia), skeletal abnormalities, and heart defects.

Several different changes involving chromosome 12 have been reported, including an extra piece of the chromosome in each cell (partial trisomy 12), a missing segment of the chromosome in each cell (partial monosomy 12), and a circular structure called a ring chromosome 12. Ring chromosomes occur when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a circular structure.

Is there a standard way to diagram chromosome 12?

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 12
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 12?

You may find the following resources about chromosome 12 helpful. These materials are written for the general public.

  • Additional NIH Resources - National Institutes of Health
    National Human Genome Research Institute: Chromosome Abnormalities (http://www.genome.gov/11508982)
  • MedlinePlus - Health information
    Encyclopedia: Chromosome (http://www.nlm.nih.gov/medlineplus/ency/article/002327.htm)

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

  • Research Resources - Tools for researchers

    • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Indexbychrom/idxa_12.html)
    • Cancer Genetics Web (http://www.cancerindex.org/geneweb/clinkc12.htm)
    • Database of Genomic Variants: Chromosome 12 (http://projects.tcag.ca/variation/cgi-bin/tbrowse/tbrowse?source=hg17&table=Locus&show=table&keyword=&flop=AND&fcol=_C19&fcomp==&fkwd=chr12&cols=)
    • Ensembl Human Map View: Chromosome 12 (http://www.ensembl.org/Homo_sapiens/Location/Chromosome?chr=12)
    • The finished DNA sequence of human chromosome 12. Nature. 2006 Mar 16;440(7082):346-51. (http://www.nature.com/nature/journal/v440/n7082/full/nature04569.html)
    • U.S. Department of Energy: Human Chromosome Launchpad (http://www.ornl.gov/sci/techresources/Human_Genome/launchpad/chrom12.shtml)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=(Chromosomes,%20Human,%20Pair%2012%5BMAJR%5D)%20AND%20(Chromosome%2012%5BTI%5D)%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
  • Map Viewer - Genetic maps (http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?org=human&maps=ideogr,morbid,pheno&zoom=100&chr=12)

What glossary definitions help with understanding chromosome 12?

adolescent ; base pair ; cancer ; cell ; chromosome ; DNA ; fatty tissue ; gene ; hypotonia ; immune system ; isochromosome ; leukemia ; lymphoma ; monosomy ; mosaic ; muscle tone ; rearrangement ; ring chromosomes ; sarcoma ; syndrome ; tendon ; tissue ; translocation ; trisomy ; tumor

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

References

  • Dim DC, Cooley LD, Miranda RN. Clear cell sarcoma of tendons and aponeuroses: a review. Arch Pathol Lab Med. 2007 Jan;131(1):152-6. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17227118?dopt=Abstract)
  • Dufke A, Walczak C, Liehr T, Starke H, Trifonov V, Rubtsov N, Schöning M, Enders H, Eggermann T. Partial tetrasomy 12pter-12p12.3 in a girl with Pallister-Killian syndrome: extraordinary finding of an analphoid, inverted duplicated marker. Eur J Hum Genet. 2001 Aug;9(8):572-6. (http://www.ncbi.nlm.nih.gov/pubmed/11528501?dopt=Abstract)
  • Ensembl Human Map View: Chromosome 12 (http://www.ensembl.org/Homo_sapiens/Location/Chromosome?chr=12)
  • Gilbert F, Kauff N. Disease genes and chromosomes: disease maps of the human genome.Chromosome 12. Genet Test. 2000;4(3):319-33. (http://www.ncbi.nlm.nih.gov/pubmed/11142767?dopt=Abstract)
  • Italiano A, Cardot N, Dupré F, Monticelli I, Keslair F, Piche M, Mainguené C, Coindre JM, Pedeutour F. Gains and complex rearrangements of the 12q13-15 chromosomal region in ordinary lipomas: the "missing link" between lipomas and liposarcomas? Int J Cancer. 2007 Jul 15;121(2):308-15. (http://www.ncbi.nlm.nih.gov/pubmed/17372913?dopt=Abstract)
  • Leube B, Majewski F, Gebauer J, Royer-Pokora B. Clinical, cytogenetic, and molecular observations in a patient with Pallister-Killian-syndrome with an unusual karyotype. Am J Med Genet A. 2003 Dec 15;123A(3):296-300. (http://www.ncbi.nlm.nih.gov/pubmed/14608653?dopt=Abstract)
  • Map Viewer: Genes on Sequence (http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?ORG=human&MAPS=ideogr,ugHs,genes&CHR=12)
  • Montgomery KT, Lee E, Miller A, Lau S, Shim C, Decker J, Chiu D, Emerling S, Sekhon M, Kim R, Lenz J, Han J, Ioshikhes I, Renault B, Marondel I, Yoon SJ, Song K, Murty VV, Scherer S, Yonescu R, Kirsch IR, Ried T, McPherson J, Gibbs R, Kucherlapati R. A high-resolution map of human chromosome 12. Nature. 2001 Feb 15;409(6822):945-6. (http://www.ncbi.nlm.nih.gov/pubmed/11237017?dopt=Abstract)
  • Pai, G Shashidhar; Lewandowski, Raymond C; Borgaonkar, Digamber S; Handbook of chromosomal syndromes; Hoboken, N.J. : Wiley-Liss, c2003. p178-196.
  • Scherer SE, Muzny DM, Buhay CJ, Chen R, Cree A, Ding Y, Dugan-Rocha S, Gill R, Gunaratne P, Harris RA, Hawes AC, Hernandez J, Hodgson AV, Hume J, Jackson A, Khan ZM, Kovar-Smith C, Lewis LR, Lozado RJ, Metzker ML, Milosavljevic A, Miner GR, Montgomery KT, Morgan MB, Nazareth LV, Scott G, Sodergren E, Song XZ, Steffen D, Lovering RC, Wheeler DA, Worley KC, Yuan Y, Zhang Z, Adams CQ, Ansari-Lari MA, Ayele M, Brown MJ, Chen G, Chen Z, Clerc-Blankenburg KP, Davis C, Delgado O, Dinh HH, Draper H, Gonzalez-Garay ML, Havlak P, Jackson LR, Jacob LS, Kelly SH, Li L, Li Z, Liu J, Liu W, Lu J, Maheshwari M, Nguyen BV, Okwuonu GO, Pasternak S, Perez LM, Plopper FJ, Santibanez J, Shen H, Tabor PE, Verduzco D, Waldron L, Wang Q, Williams GA, Zhang J, Zhou J, Allen CC, Amin AG, Anyalebechi V, Bailey M, Barbaria JA, Bimage KE, Bryant NP, Burch PE, Burkett CE, Burrell KL, Calderon E, Cardenas V, Carter K, Casias K, Cavazos I, Cavazos SR, Ceasar H, Chacko J, Chan SN, Chavez D, Christopoulos C, Chu J, Cockrell R, Cox CD, Dang M, Dathorne SR, David R, Davis CM, Davy-Carroll L, Deshazo DR, Donlin JE, D'Souza L, Eaves KA, Egan A, Emery-Cohen AJ, Escotto M, Flagg N, Forbes LD, Gabisi AM, Garza M, Hamilton C, Henderson N, Hernandez O, Hines S, Hogues ME, Huang M, Idlebird DG, Johnson R, Jolivet A, Jones S, Kagan R, King LM, Leal B, Lebow H, Lee S, LeVan JM, Lewis LC, London P, Lorensuhewa LM, Loulseged H, Lovett DA, Lucier A, Lucier RL, Ma J, Madu RC, Mapua P, Martindale AD, Martinez E, Massey E, Mawhiney S, Meador MG, Mendez S, Mercado C, Mercado IC, Merritt CE, Miner ZL, Minja E, Mitchell T, Mohabbat F, Mohabbat K, Montgomery B, Moore N, Morris S, Munidasa M, Ngo RN, Nguyen NB, Nickerson E, Nwaokelemeh OO, Nwokenkwo S, Obregon M, Oguh M, Oragunye N, Oviedo RJ, Parish BJ, Parker DN, Parrish J, Parks KL, Paul HA, Payton BA, Perez A, Perrin W, Pickens A, Primus EL, Pu LL, Puazo M, Quiles MM, Quiroz JB, Rabata D, Reeves K, Ruiz SJ, Shao H, Sisson I, Sonaike T, Sorelle RP, Sutton AE, Svatek AF, Svetz LA, Tamerisa KS, Taylor TR, Teague B, Thomas N, Thorn RD, Trejos ZY, Trevino BK, Ukegbu ON, Urban JB, Vasquez LI, Vera VA, Villasana DM, Wang L, Ward-Moore S, Warren JT, Wei X, White F, Williamson AL, Wleczyk R, Wooden HS, Wooden SH, Yen J, Yoon L, Yoon V, Zorrilla SE, Nelson D, Kucherlapati R, Weinstock G, Gibbs RA; Baylor College of Medicine Human Genome Sequencing Center Sequence Production Team. The finished DNA sequence of human chromosome 12. Nature. 2006 Mar 16;440(7082):346-51. (http://www.ncbi.nlm.nih.gov/pubmed/16541075?dopt=Abstract)
  • Struthers JL, Cuthbert CD, Khalifa MM. Parental origin of the isochromosome 12p in Pallister-Killian syndrome: molecular analysis of one patient and review of the reported cases. Am J Med Genet. 1999 May 21;84(2):111-5. Review. (http://www.ncbi.nlm.nih.gov/pubmed/10323734?dopt=Abstract)
  • Thway K. Angiomatoid fibrous histiocytoma: a review with recent genetic findings. Arch Pathol Lab Med. 2008 Feb;132(2):273-7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18251589?dopt=Abstract)
  • UCSC Genome Browser: Statistics (http://genome.cse.ucsc.edu/goldenPath/stats.html)
  • Yeung A, Francis D, Giouzeppos O, Amor DJ. Pallister-Killian syndrome caused by mosaicism for a supernumerary ring chromosome 12p. Am J Med Genet A. 2009 Mar;149A(3):505-9. (http://www.ncbi.nlm.nih.gov/pubmed/19215037?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: June 2009
Published: May 14, 2012