[A report of 2 cases of Turner's syndrome with a ring X chromosome].
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.
Migliori
M V
MV
Sezione di Citogenetica, Ospedale G. Salesi, Ancona.
Bartolotta
E
E
Maurizi
M
M
Bonazzi
P
P
Cardinale
G
G
Manunza
V
V
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
Descrizione di due casi di sindrome di Turner con cromosoma X ad anello.