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doi: 10.1002/ajmg.1320420204.
Noninactivation of a portion of Xq28 in a balanced X-autosome translocation
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- PMID: 1733163
- DOI: 10.1002/ajmg.1320420204
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Case Reports
Noninactivation of a portion of Xq28 in a balanced X-autosome translocation
Am J Med Genet.
.
Abstract
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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