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

Abstract

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). Prospective cytogenetic analysis, fluorescence in situ hybridization (FISH) analysis and oligonucleotide array comparative genome hybridization (CGH). University medical center. A 36-year-old woman with POI found to have a highly rearrangement X chromosome. FISH analysis and oligonucleotide array CGH. Oligonucleotide microarray analysis to detect duplicated, deleted, or translocated regions of the X chromosome. 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. Array CGH can reveal candidate genes that may have essential roles in fertility and POI.