Premature ovarian failure and ovarian dysgenesis associated with balanced and unbalanced X-6 translocations, respectively: implications for the investigation of ovarian failure.

This study reports the effect of an inherited (X;6) translocation which has not previously been described. The proband was intellectually delayed and had ovarian dysgenesis. Karyotyping revealed an unbalanced karyotype: 46,X,der(X)t(X;6)(q22; p11.2)*. Her mother was shown to be a carrier of an apparently balanced translocation between the X chromosome and chromosome 6: 46,X,t(X;6)(q22;p11.2). This finding in the mother raises to 7 the number of cases reported which involve a break within the X chromosome 'critical region', at band Xq22, without causing ovarian dysgenesis, although it was associated with premature ovarian failure. These cases aim to highlight to clinical specialists the range of gonadal and other phenotypic anomalies (apart from those associated with Turner syndrome) which can occur due to partial deletions of the X chromosome. These findings have implications for the investigation of both ovarian dysgenesis and premature ovarian failure.