Sex chromosome mosaicism in disorders of sexual differentiation: Incidence in various tissues

The occurrence of gonadal dysgenesis in association with monozygotic twinning.

“…Mosaicism, detected in our case as well as in several other cases of monozygotic twins discordant for gonadal dysgenesis (Mikkelsen et al, 1963;Edwards et al, 1966;Ross et al, 1969) was also present in at least five (Turner and Zanartu, 1962;Russell et al, 1966;Ferrier, Ferrier, and Kelley, 1970;Muller et al, 1970;van der Horst, Frankel, and Grace, 1971) and probably six (Lemli and Smith, 1963) of the nine reported monozygotic female twin pairs concordant for sex chromosomal aneuploidy. * Furthermore, in our opinion, the reported data for the three remaining twin pairs (Decourt et al, 1964;Klempman, 1964;Riekhof, 1972) are not sufficient for accurate assessment of mosaicism.…”

Cytogenetic and Clinical Study on 100 Cases of Primary Amenorrhoea

“…However, if mosaicism is not detectable in a blood culture it is very rarely found in cultures of other tissues either. Ferrier et al (1970) studied 31 cases of mosaicism in blood cultures and in skin cultures from two sites. There was only one case not apparent from the lymphocyte culture but seen in skin culture.…”

An X-O Anomaly and Ovarian Dysgenesis in a Rhesus Monkey

“…This is usually associated with low estrogen and high gonadotropin secretion [Lindsten, 1963] and with a high prenatal mortality [Carr, 1965], Many patients surviving with Turner's syndrome are karyotypic mosaics [Ferrier et al, 1970]. This anomaly has not been heretofore described in nonhuman primates.…”