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Updated: Jun 2, 2026
Exploring X Chromosomal Aberrations in Ovarian Cells by Using Fluorescence In Situ Hybridization
Published on: April 7, 2023
Complex X chromosome rearrangement delineated by array comparative genome hybridization in a woman with premature
Melanie E Ochalski1, Natalie Engle, Anthony Wakim
1Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15213, USA.
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.
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