[45,X/46, XYnf/47, XYnfYnf/46, X, dic (Ynf) (q12) mosaicism in a female patient with gonadal dysgenesis and the stigmata of Turner's syndrome].
A 17-year-old girl was referred to us because of primary amenorrhea and features of Turner's Syndrome. The karyotype obtained from peripheral lymphocytes cultures was mos 45,X/46, XYnf/47, XYnfYnf/46, X, dic (Ynf) (q12). The karyotype of fibroblasts derived from cultures of both gonads was mos 45, X/46, XYnf/47, XYnfYnf. The Y chromosome was non-fluorescent in all the examined lines. We report here the clinical and cytogenetic findings in a patient with an unusual sex chromosome mosaicism.
Gil
R
R
Departamento de Patología, Facultad de Medicina de la Universidad de Valencia.
Galán
F
F
López-Ginés
C
C
Gregori-Romero
M
M
Millet
A
A
Pellín
A
A
Llombart-Bosch
A
A
D000293:Adolescent; D000568:Amenorrhea / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism / Q000235:genetics*; D014424:Turner Syndrome / Q000175:diagnosis / Q000235:genetics*
Mosaicismo 45,X/46, XYnf/47, XYnfYnf/46, X, dic (Ynf) (q12) en una paciente con disgenesia gonadal y estigmas de síndrome de Turner.