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Concept information

Preferred term

Turner Syndrome  

Type

  • Topical Descriptor

Entry terms

  • Syndrome, Ullrich-Turner
  • Turner's Syndrome
  • Turners Syndrome
  • Ullrich Turner Syndrome
  • Ullrich-Turner Syndrome

Note

  • in females; TURNER SYNDROME, MALE see NOONAN SYNDROME is also available

Scope note

  • A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.

History note

  • 2002(1963); for BONNEVIE-ULLRICH SYNDROME use SEX CHROMOSOME ABNORMALITIES 1963-2001

In other languages

URI

http://www.yso.fi/onto/mesh/D014424

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