Chromosome 22


Human chromosome 22 is the second smallest of the autosomes and contains ∼1.7% of the genetic material in the genome. It is relatively gene‐rich and contains clusters of rRNA and immunoglobulin lambda light chain genes.

Keywords: chromosome 22; sequencing; DiGeorge syndrome; velocardiofacial syndrome; recurrent translocations; low copy repeats


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Further Reading

Collins JE, Mungall AJ, Badcock KL, Fay JM and Dunham I (1997) The organization of gamma‐glutamyltransferase genes and other low copy repeats in human chromosome 22q11. Genome Research 7: 522–531.

Driscoll DA, Budarf ML and Emanuel BS (1992) A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. American Journal of Human Genetics 50: 924–933.

Driscoll DA, Spinner NB, Budarf ML, et al. (1992) Deletions and microdeletions of 22q11.2 in velo‐cardio‐facial syndrome. American Journal of Medical Genetics 44: 261–268.

Emanuel BS, Budarf ML, Shaikh T and Driscoll DA (1998) Blocks of duplicated sequence define the endpoints of DGS/VCFS 22q11.2 deletions. American Journal of Human Genetics 63: A11.

Lindsay EA, Halford S, Wadey R, Scambler PJ and Baldini A (1993) Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization. Genomics 17: 403–407.

Shaikh TH, Kurahashi H and Emanuel BS (2001) Evolutionarily conserved duplications in 22q11 mediate deletions, duplications, translocations and genomic instability. Genetics in Medicine 3(1): 6–13.

Web Links

NCBI LocusLink A single query interface to curated sequences and descriptive information about genetic loci. Contains information on official nomenclature, aliases, sequence accessions, phenotypes, MIM numbers, homology, map locations, related web sites, etc.

Online Mendelian Inheritance in Man (OMIM). This is an on‐line repository that describes human genetic diseases

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How to Cite close
Emanuel, Beverly S, and Shaikh, Tamim H(Jan 2006) Chromosome 22. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0005831]