title: [A report of 2 cases of Turner's syndrome with a ring X chromosome].
abstract: The authors report two cases of Turner syndrome with clinical evidence of only primitive hypogonadism and short stature. Karyotype analysis showed X ring mosaicism which is present only in 5% of cases of Turner syndrome. The authors agree with the hypothesis suggesting no relationship between break points on the X chromosome and phenotypical aspect. An earlier diagnosis is auspicious so that, using correct therapy, final height should be improved.
authors.affiliation: Sezione di Citogenetica, Ospedale G. Salesi, Ancona.
authors.forename: M V
authors.initials: MV
authors.lastname: Migliori
authors.forename: E
authors.initials: E
authors.lastname: Bartolotta
authors.forename: M
authors.initials: M
authors.lastname: Maurizi
authors.forename: P
authors.initials: P
authors.lastname: Bonazzi
authors.forename: G
authors.initials: G
authors.lastname: Cardinale
authors.forename: V
authors.initials: V
authors.lastname: Manunza
mesh_terms: D000293:Adolescent; D002648:Child; D005260:Female; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism / Q000235:genetics; D012303:Ring Chromosomes; D012729:Sex Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics; D014424:Turner Syndrome / Q000175:diagnosis* / Q000235:genetics; D014960:X Chromosome
vernacular_title: Descrizione di due casi di sindrome di Turner con cromosoma X ad anello.