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Turnerov syndróm

  1. Subject h.Turnerov syndróm
    Subject h.Turner Syndrome
    Entry termsgonadodysgenéza, 45,X
    gonadodysgenéza, X0
    dysgenéza gonadálna, 45,X
    dysgenéza gonadálna, X0
    dysgenéza gonád, 45,X
    dysgenéza gonád, X0
    Bonnevieovej-Ullrichov syndróm
    Ullrichov-Turnerov syndróm
    monozómia X
    English X referencesBonnevie-Ullrich Syndrome
    Gonadal Dysgenesis, 45,X
    Gonadal Dysgenesis, XO
    Scope note in EnglishA 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.
    See also reference (FX) in Slovak Noonanovej syndróm
    See also reference (FX) in English Noonan Syndrome
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Number of the records: 1  

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