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A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease

✍ Scribed by Rosenberg, Carla; Wouters, Cokkie H; Szuhai, Karoly; Dorland, Rien; Pearson, Peter; Tien Poll-The, Bwee; Colombijn, R Max; Breuning, Martijn; Lindhout, Dick

Book ID
110025095
Publisher
Nature Publishing Group
Year
2001
Tongue
English
Weight
297 KB
Volume
9
Category
Article
ISSN
1018-4813

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Cytogenetic analyses have previously shown that the region Xq11.2-q21 is retained in all structurally abnormal X chromosomes. From these observations the conclusion has been drawn that this "critical region" on the proximal long arm of the X chromosome contains the locus controlling X-inactivation.