An unusual tricentric X chromosome detected prenatally

We describe a female fetus with a de novo X chromosome rearrangement detected prenatally in both chorion villi and a pleural effusion. Chromosome painting showed the chromosome to be composed entirely of X chromosome material, while G-banding indicated a duplication of X short arms, four copies of the proximal long arm, and deletion of the distal long arm of the X. C-banding showed the presence of one active and two inactive centromeres and X-inactivation studies demonstrated the tricentric chromosome to be late replicating in all cells examined. The origin of this complex de novo rearrangement appears to have involved two separate breakage events, the first leading to the production of a dicentric X chromosome and the second generating the tricentric X.