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Concept information

Preferred term

Fragile X Syndrome  

Type

  • Topical Descriptor

Entry terms

  • Fragile X Mental Retardation Syndrome
  • Fra(X) Syndrome
  • Marker X Syndrome
  • Marker X Syndromes
  • Martin Bell Syndrome
  • Martin-Bell Syndrome
  • Mental Retardation, X-Linked, Associated With Marxq28
  • Syndrome, Marker X
  • Syndrome, Martin-Bell
  • Syndromes, Marker X
  • X Linked Mental Retardation and Macroorchidism
  • X-Linked Mental Retardation and Macroorchidism

Scope note

  • A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)

History note

  • 91(83); was see under SEX CHROMOSOME ABNORMALITIES 1983-90

In other languages

  • Finnish

  • fragiili X
  • fragiili X -syndrooma
  • fragiili-X
  • fragile X
  • fragile X -oireyhtymä
  • fragile X -syndrooma
  • fragile-X
  • frax
  • frax-oireyhtymä
  • frax-syndrooma
  • fraxi-oireyhtymä
  • fraxi-syndrooma
  • Martin-Bell
  • Martin-Bellin oireyhtymä
  • Martin-Bellin syndrooma
  • särö-X
  • särö-X-oireyhtymä
  • särö-X-syndrooma
  • Swedish

  • Fraxa-syndrom

URI

http://www.yso.fi/onto/mesh/D005600

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