Trisomy D1 (13-15) associated with XO-XY mosaicism.

A female with XO/XY mosaicism and partial trisomy 9p.

Testicular Feminization Syndrome

Testicular feminization syndrome (TFS) represents a well-defined form of male pseudohermaphroditism. The patients are of female legal sex. The habitus is completely and often attractively feminine, with well-developed breasts. There is absence of axillary and pubic hair. The external genitalia are female but with a blind vagina. At laparotomy the uterus and Fallopian tubes are found to be absen...

A patient with 45XO-48XYYY mosaicism.

Many cases of chromosomal mosaicism of the XO/XY type have been described. The phenotype of these patients has shown a wide diversity. In a recent review of 19 published cases in which the XO/XY sex chromosome pattern was established (Jackson, Hoffman, and Makda, 1966), 14 were apparently female and 5 male. The occurrence of XO/XYY mosaicism has been reported less often. Jacobs, Harnden, Buckto...

XO/XY mosaicism in phenotypic males.

Eight cases of 45 XO/46 XY mosaicism are described: four were phenotypic males. Karyotyping should be performed more frequently in short boys as growth hormone treatment and testicular biopsy, to screen for carcinoma in situ, are likely to be beneficial.

Trisomy 22 mosaicism.

A child with many symptoms of trisomy 22 syndrome is described. The child showed a 46,XY/47,XY,+22 chromosome constitution. This is the first reported case of a trisome 22 phenotype with such a mosaic karyotype.