Turner Syndrome


Turner syndrome (TS) results from the absence of some or all of the X chromosome, with a karyotype of 45,X in the fully developed syndrome. Because not all genes on the X chromosome are inactivated normally, the diminished expression of these genes presumably leads to the TS phenotype, including short stature, incomplete sexual development and reproductive function, and other structural and cognitive abnormalities. Research has begun to identify genes that are potentially linked to TS, including the short stature homeobox (SHOX) gene and DFRX, the human homolog of a fruitfly gene involved in oogenesis.

Keywords: turner syndrome; X‐inactivation; mosaicism, short stature, SHOX gene, premature ovarian failure, cognitive abnormalities

Further Reading

Heard E, Clerc P and Avner P (1997) X‐chromosome inactivation in mammals. Annual Reviews in Genetics 31: 571–610.

Percec I and Bartolomei MS (2002) Do X chromosomes set boundaries? Science 295: 287–288.

Ranke MB and Saenger P (2001) Turner's syndrome. Lancet 358: 309–314.

Reiss A, Mazzocco M, Greenlaw R, Freund L and Ross J (1995) Neurodevelopmental effects of X monosomy and volumetric imaging study. Annals of Neurology 38: 731–738.

Ross JL, Roeltgen D, Kushner H, Wei F and Zinn AR (2000) The Turner syndrome‐associated neuroscognitive phenotype maps to distal Xp. American Journal of Human Genetics 67: 672–681.

Saenger P (1996) Turner's syndrome. New England Journal of Medicine 335(23): 1749–1754.

Zinn AR and Ross JL (1998) Turner syndrome and haploinsufficiency. Current Opinion in Genetics and Development 8(3): 322–327.

Web Links

Short stature homeobox (SHOX); LocusID: 6473. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=6473

X (inactive)‐specific transcript (XIST); LocusID: 7503. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=7503

Short stature homeobox (SHOX); MIM number: 400020. OMIM: http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?400020

X (inactive)‐specific transcript (XIST); MIM number: 314670. OMIM http://www.ncbi.nlm.nih.gov/htbin‐post/Omim/dispmim?314670

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How to Cite close
Hall, Laura L(Jan 2006) Turner Syndrome. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0005688]