Noninactivation of a portion of Xq28 in a balanced X-autosome translocation.
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.
Du Sart
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Murdoch Institute, VCGS, Royal Children's Hospital, Melbourne, Australia.
Kalitsis
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Schmidt
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D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D004247:DNA / Q000378:metabolism; D004303:Dosage Compensation, Genetic; D005260:Female; D006801:Humans; D007621:Karyotyping; D008745:Methylation; D010641:Phenotype; D014178:Translocation, Genetic / Q000235:genetics*; D014960:X Chromosome
D004247:DNA