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Regions retained on marker X chromosomes in 7 mosaic Turner syndrome girls with congenital hyperinsulinism. Marker X chromosomes ranged in size from 18 Mb (case 5) to approximately 109 Mb (case 9). Marker X chromosomes were confirmed to be in a ring conformation in cases 5, 6, and 8 (hatched). Case 9 had an isodicentric X chromosome. All abnormal X chromosomes retained the XIST locus (Xq13.1); only case 6 retained the KDM6A gene locus (Xp11.3).
