Cytogenetical and clinical investigations in four subjects with anomalies of sexual development

45 XO/49 XYYYY Mosaicism in a male with stigmata of Turner's syndrome

“…Furthermore, most of the clinical features exhibited by our patient at birth were more similar to the situation of 45,XO males described by Fraccaro et al (1966) and Forabosco et al (1977). Furthermore, most of the clinical features exhibited by our patient at birth were more similar to the situation of 45,XO males described by Fraccaro et al (1966) and Forabosco et al (1977).…”

“…Phenotypic males with 45,XO karyotypes are extremely rare, and they exhibit a variable number or physical signs of Turner's syndrome (Fraccaro et al 1966, Lo Curto et al 1974, Koo et al 1976, Forabosco et al 1977.…”

45,X/47,XYY mosaicism.

“…If the error occurs late in cleavage after the establishment of a normal cell line, a multiple cell line mosaic will result (Hamerton, 1971b). There have been several reports of such triple cell line mosaics (Fraccaro et al, 1966). In the present case, only 2 cells in the 400 cells examined had a normal male karyotype.…”

Mixed Gonadal Dysgenesis

“…These unusual findings would seem consistent with some "testicular" effect of these gonads during fetal life. Ovarian type stroma in the testis has been demonstrated in eight patients with MGD as well as in patients with male pseudohermaphroditism (Terrier 8c Kelley 1967; Fraccaro et al 1966). Another contained ovarian type stroma and primitive germ-cell nests (Melicow 8c Uson 1959) while a fourth was macroscopically a typical streak gonad which contained a few structures suggestive of lumenless tubules (Federman 1967).…”