Genes, Vol. 12, Pages 798: Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX
In conclusion, this case highlights the importance of Southern blot in pre- and postnatal testing for presence of an FM, which was not detected using AmplideX TP-PCR or mPCR in the proband and her CVS.
Source: Genes - Category: Genetics & Stem Cells Authors: Alison Pandelache David Francis Ralph Oertel Rebecca Dickson Rani Sachdev Ling Ling Dinusha Gamage David E. Godler Tags: Case Report Source Type: research
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