Pericentric inversion in a group D chromosome (13–15) associated with amenorrhea and gonadal dysgenesis

Abstract

Summary A sex‐chromatin‐positive female with secondary amenorrhea and minimal stigmata of gonadal dysgenesis is described. This diagnosis was confirmed by the observation of ‘streak gonads’ at laparotomy and histologic interpretation of rudimentary ovarian development. Cells cultured from peripheral blood, skin and gonadal tissues for cytogenetic evaluation exhibited an abnormal karyotype. The modal number was 46; however, only five normal chromosomes were found in group D (13–15). An abnormal submetacentric chromosome was also present. Morphologic, measurement and autoradiographic data suggest that the ‘marker’ chromosome represents a pericentric inversion of the sixth D‐group member.