Product Description:
Cytogenetics and molecular cytogenetic studies play an important role in the study of mental deficiencies lacking specific clinical landmarks since they may be associated with small chromosome deletions and duplications. Many chromosome abnormalities are sub-microscopic and can only be resolved with FISH studies which are becoming more time-consuming and costly due to the increasing number of ?critical chromosome regions? to examine. CGH-microarray is a high throughput molecular cytogenetic approach that allows for the simultaneous examination of several hundred chromosome regions in one assay. To test the reliability of CGH-microarray, we utilized the GenoSensor Array 300 (Vysis, Downers Grove) to study nine cytogenetically abnormal cases and three cases with normal chromosome and FISH studies associated with abnormal phenotypes.
Conclusion: CHG-microarray accurately identified the regions of deletion and duplication in the nine abnormal cases previously documented by G-banding and/or FISH. Specifically, deletions of 1p36, 3ptel, 7ptel, 7q11.2, 8p22, 15q11.2-q13, 15q26.3 and 22q11.2, duplications of 5p15.2-5pter, 8q24.3-8ter and 10p15 and trisomy 18 were detected by CGH-microarray. Six of nine abnormal cases involved a deletion and/or duplication of one or more subtelomeric regions. In several cases, precise breakpoint delineation within chromosomal sub-band regions were accomplished. The two cases with normal karotypes and the one case with a balanced translocation were negative for chromosomal gain or loss relative to the clones on this microarray. When used in combination with cytogenetics and FISH, CGH-microarray is a useful tool for detection of subtelomeric and other subtle chromosome deletions and duplications and to help further define breakpoints in unbalanced karyotypes.
