[A second case of (de novo) paracentric inversion of the short arm of the X chromosome]

Abstract

A de novo paracentric inversion of the short arm of an X chromosome (p11.2p22.1) was observed in a 17-year-old girl studied because of primary amenorrhea and a Turner phenotype. To our knowledge this is only the second case of a paracentric inversion of the X chromosome short arm reported, the first having been briefly described in 1982, in a young lady with the Turner phenotype. In spite of its balanced appearance, there is little doubt that this rearrangement is the cause of the phenotypic anomalies of the patient, probably as the result of gene(s) modification(s) at the breakpoints on the X chromosome, or because the inverted gene sequence resulted in modifications by position effect. It has become increasingly difficult to recognize obvious phenotype-genotype correlations in Turner syndrome, given the multiplicity of chromosome rearrangements--some of them quite subtle--which are associated with ovarian dysgenesis.