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

Abstract

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.