[45,X/ 46,XX/ 46,XY Mosaic with female phenotype].
Report on a girl with female phenotype and 45,X/46,XX/46,XY mosaicism. The patient showed primary amenorrhea, low stature (1,47 m), but no other typical features of Turner's syndrome. Chromosome studies were carried out on cultures of blood lymphocytes, with usual methods and with R- G- and Q-banding: 43,3 % of cells were 46,XY ; 36,6 % were 45,X and 20 % were 46,XX. The chromosome Y is a non-fluorescent one. A comparison is made with other published cases.
D000568:Amenorrhea / Q000235:genetics; D001827:Body Height; D005260:Female; D006801:Humans; D009030:Mosaicism; D012729:Sex Chromosome Aberrations
Mosaique 45,X/ 46,XX/ 46,XY avec phénotype féminin.