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.
(Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.)