dysgenéza gonadálna, 45,X dysgenéza gonadálna, XO Bonnevieovej-Ullrichov syndróm Bonnevie-Ullrich syndróm stav popísaný Bonnevieovou-Ullrichom Ullrichov-Turnerov syndróm monozómia X
English X references
Bonnevie-Ullrich Syndrome Gonadal Dysgenesis, 45,X Gonadal Dysgenesis, XO
Scope note in English
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.
See also reference (FX) in Slovak
Noonanovej syndróm
See also reference (FX) in English
Noonan Syndrome
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subject heading
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