Premature ovarian failure in a patient with a complex chromosome rearrangement involving the critical region Xq24, characterized by analysis using fluorescence in situ hybridization by chromosome microdissection

We report on an Indian patient who has premature ovarian failure with primary amenorrhea as well as a hormone level increased for LH and FSH but decreased for TSH. She has a balanced complex translocation with three breakpoints in the X chromosome that were located by fluorescence in situ hybridization by chromosome microdissection, but no breakpoints localized in the critical regions for premature ovarian failure on the X chromosome. The breakpoint in Xq24 may be associated with the amenorrhea.