Chromosome Studies in Five Cases of Coloboma of the Iris

Pericentric inversion in a family with a 21/22 translocation

“…Presumptive pericentric inversions have been reported on several occasions (Ellis et al, 1962;Chandra and Hungerford, 1963;De Grouchy et al, 1963;Lele et al, 1965;J acobs et al, 1965, personal communication;Wong et al, 1966, personal communica tion) ; in several of these cases the inversion was also found in normal relatives. We have been able to confirm the experience of some of the above-named authors in that the pericentric inversion is not in itself a cause of congenital abnormalities.…”

Rieger's syndrome with pericentric inversion of chromosome 6.

“…Ocular anomalies associated with pericentric inversions have been summarised by Jay (1977). Simple and typical colobomata of the iris have been found in 4 cases of pericentric inversions (Lele et al, 1965;Schmid, 1967;Mikelsaar et al, 1970). Pitt (1967) presented a case of an inversion of a C-group chromosome with associated exotropia, epicanthal folds, and hypertelorism; however, no anomalies of the iris or anterior chamber angle were noted.…”

The clinical and genetic picture of trisomy 18 (Edwards' syndrome)

“…Inversions are occasionally found in phenotypically normal individuals [4,27] but also in patients [6,13,14].…”