[Turner syndrome. Cytogenetic analysis of 165 patients with Turner syndrome. 1st report].
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.
Vignetti
P
P
Cattedra di Clinica Pediatrica, Università La Sapienza, Roma.
Brinchi
V
V
Bruni
L
L
Rizzuti
A
A
Tarani
L
L
Tozzi
M C
MC
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
La sindrome di Turner. Analisi citogenetica di 165 pazienti con S. di Turner. Prima comunicazione.