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Identification of a de novo heterozygous deletion in a spina bifida proband which removes the polarity genes glypicans GPC5 and GPC6. Segmentation plots of aCGH data generated by Roche NimbleGen software of mother (top), father (middle) and proband (bottom). Genes within this region are indicated below the segmentation plots. Note that the entire GPC5 gene is removed by the deletion, whereas only the first two exons of GPC6 are removed.
