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| http://dx.doi.org/10.3109/10428194.2015.1007503 | DOI Listing |
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Introduction: Infertility and recurrent pregnancy loss are serious health problems often associated with genetic abnormalities such as chromosomal rearrangements. Although conventional cytogenetics plays a crucial role in this kind of diagnostics, it fails to detect submicroscopic changes, especially in the pericentromeric regions of acrocentric chromosomes, which are potentially prone to rearrangement. To overcome this limitation, this study aimed to identify such subtle changes that can lead to reproductive disorders using fluorescence in situ hybridization (FISH) technique and newly developed fluorescence probes that specifically target these regions.
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Cytogenetic studies are essential in the diagnosis and follow up of patients with bone marrow failure syndromes (BMFSs), but obtaining good quality results is often challenging due to hypocellularity. Optical Genome Mapping (OGM), a novel technology capable of detecting most types chromosomal structural variants (SVs) at high resolution, is being increasingly used in many settings, including hematologic malignancies. Herein, we compared conventional cytogenetic techniques to OGM in 20 patients with diverse BMFSs.
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