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 whic h has not previously been described. The proband was intellectually de layed and had ovarian dysgenesis. Karyotyping revealed an unbalanced k aryotype: 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 chromos ome and chromosome 6: 46,X,t(X;6)(q22;p11.2). This finding in the moth er raises to 7 the number of cases reported which involve a break with in t he X chromosome 'critical region, at band Xq22, without causing o varian dysgenesis, although it was associated with premature ovarian f ailure. These cases aim to highlight to clinical specialists the range of gonadal and other phenotypic anomalies (apart from those associate d with Turner syndrome) which can occur due to partial deletions of th e X chromosome. These findings have implications for the investigation of both ovarian dysgenesis and premature ovarian failure.