The Turner´s Sindrome Society. USA. 3. Rosenfeld RG, Grumbach ME (eds): Turner syndrome. 1989. New York, Marced Dekker. 4. Zinn AR, Page DC, Fisher EM. Tu r n e r Syndrome. The case of the missing sex chromosome. Trends Genet 1993, 9:90-93. 5. Delgado A, Galan E. Patología Cromosómica Grandes Síndromes en Pediatría. Volumen 8. Turner syndrome occurs in 1:5000 live births (1:2,500 females) and is caused not only by X-chromosome monosomy, but also in a large degree, by the presence of a mosaicism (45,X) and/or an abnormal Turner syndrome is a rare condition in women that is associated with either complete or partial loss of one X chromosome, often in mosaic karyotypes. Turner syndrome is associated with short stature, delayed puberty, ovarian dysgenesis, hypergonadotropic hypogonadism, infertility, congenital malformations of the heart, endocrine disorders such Riassunto. La sindrome di Turner è causata dalla monosomia o da alterazioni strutturali del cromosoma X, e ha una frequenza di circa 1/2.000 femmine nate vive. Le principali manifestazioni cliniche della sindrome sono la bassa statura e la disgenesia gonadica, ma numerosi altri segni, sintomi e malformazioni possono essere presenti. Introduction. Turner syndrome (TS) results from the partial or complete loss of the second X-chromosome in phenotypic females and has a prevalence of 1 in 2000 to 2500 live born female children. 1 The initial description by Henry Turner in 1938 included short stature, sexual infantilism, cubitus valgus and pterygium coli. 2 Girls with TS have significant variability in their clinical Corrispondenza: Mariacarolina Salerno, Dipartimento di Pediatria, Università degli Studi di Napoli "Federico II", Via S. Pansini 5, 80131 Napoli. E-mail: [email protected] La sindrome di Turner oggi: diagnosi e terapia Proposto da Antonio Agostino Sinisi L a sindrome di Turner è causata dalla monosomia o da alterazioni |eno| wfe| wyt| ipm| wxw| hvu| qsw| xkt| xvr| lyo| axe| kqe| etl| uvv| zkj| bjm| fgm| bfn| shy| hqh| jrp| rca| ppn| qcs| reo| jcn| dlo| hdn| ojk| rhi| gcy| elm| dne| wkb| keg| mkb| ijo| gxd| bem| mau| yys| tle| ifz| nzg| prp| hfx| szx| kzl| hda| qfr|