title: [Turner syndrome. Cytogenetic analysis of 165 patients with Turner syndrome. 1st report].
abstract: Results are reported of a cytogenetic study on 165 patients with Turner syndrome, based on sex chromatin and karyotype tests. We found that the karyotype 45,X is present only in 54.54% of the cases in homogeneous form and in about 14% of the cases in mosaic form associated with a normal clone 46,XX or, rarely, also with a clone 47,XXX; in the other cases X structural anomalies and different kinds of mosaic forms are present. We also found 5 pregnancies in 2 patients: only 2 daughters were born and alive, the first was normal and the second presented the same karyotype and clinical picture of her mother.
authors.affiliation: Cattedra di Clinica Pediatrica, Università La Sapienza, Roma.
authors.forename: P
authors.initials: P
authors.lastname: Vignetti
authors.forename: V
authors.initials: V
authors.lastname: Brinchi
authors.forename: L
authors.initials: L
authors.lastname: Bruni
authors.forename: A
authors.initials: A
authors.lastname: Rizzuti
authors.forename: L
authors.initials: L
authors.lastname: Tarani
authors.forename: M C
authors.initials: MC
authors.lastname: Tozzi
mesh_terms: D002869:Chromosome Aberrations; D005260:Female; D006801:Humans; D007621:Karyotyping; D009006:Monosomy; D009030:Mosaicism; D011247:Pregnancy; D011248:Pregnancy Complications; D014314:Trisomy; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome
vernacular_title: La sindrome di Turner. Analisi citogenetica di 165 pazienti con S. di Turner. Prima comunicazione.