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Am J Med Genet. 1992 Jan 15;42(2):156-60.

Noninactivation of a portion of Xq28 in a balanced X-autosome translocation.

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  • 1Murdoch Institute, VCGS, Royal Children's Hospital, Melbourne, Australia.


We present a balanced translocation (X;9) (q28;q21) in which the normal X chromosome is preferentially active. The derivative X chromosome is inactive in 93% of fibroblasts, but the X portion translocated onto chromosome 9 is not inactivated, as apparent from DNA methylation and chromosome replication patterns. Consequently, the patient is functionally disomic for the part of Xq28 distal to the locus LICAM.

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