Complex X chromosome rearrangement delineated by array comparative genome hybridization in a woman with premature ovarian insufficiency.

OBJECTIVE: To investigate candidate genes affected by a complex X chromosome rearrangement that may play a role in the diagnosis of spontaneous premature ovarian insufficiency (POI). DESIGN: Prospective cytogenetic analysis, fluorescence in situ hybridization (FISH) analysis and oligonucleotide array comparative genome hybridization (CGH). SETTING: University medical center. PATIENT(S): A 36-year-old woman with POI found to have a highly rearrangement X chromosome. INTERVENTION(S): FISH analysis and oligonucleotide array CGH. MAIN OUTCOME MEASURE(S): Oligonucleotide microarray analysis to detect duplicated, deleted, or translocated regions of the X chromosome. RESULT(S): Complex rearrangement of the X chromosome involving ≥12 breakpoints resulting in two deletions, four duplications, and several intrachromosomal translocations. At least 13 genes with possible relevance to POI may be affected by the rearrangement. CONCLUSION(S): Array CGH can reveal candidate genes that may have essential roles in fertility and POI.