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Multiple Cytogenetic Techniques Facilitate the Discovery of a Translocation in a Nine Year Old POC Case

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Fiscal Year:
2005
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Cytogenetic studies on two of the fetuses and on maternal blood were reported normal. The application of advanced molecular cytogenetic techniques such as high resolution chromosomal Comparative Genomic Hybridization (cCGH), and microarray CGH (mCGH) facilitate the investigation. High Resolution cCGH and mCGH detected a region of loss on the distal end of the long arm of chromosome 11 and a gain on the distal end of the long arm of chromosome 12. conventional cytogenetics and FISH studies with subtelomeric probes for 11q and 12q confirmed the results obtained by CGH investigations (46,XY,der(11)t(11;12)(q23.3;q24.1)).
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Peer-reviewed publications in scholarly journals Published/In Press
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