Abstract
The critical importance of dosage compensation is underscored by a novel human syndrome (“XYXq syndrome”) in which we have detected partial X disomy, demonstrated supernormal gene expression resulting from the absence of X inactivation, and correlated this overexpression with its phenotypic consequences. Studies of three unrelated boys with 46,XYq- karyotypes and anomalous phenotypes (severe mental retardation, generalized hypotonia and microcephaly) show the presence of a small portion of distal Xq on the long arm of the Y derivative. Cells from these boys exhibit twice-normal activity of glucose-6-phosphate dehydrogenase, a representative Xq28 gene product. In all three cases, the presence of Xq DMA on a truncated Y chromosome resulted from an aberrant Xq–Yq interchange occurring in the father's germline.
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Lahn, B., Ma, N., Breg, W. et al. Xq–Yq interchange resulting in supernormal X-linked gene expression in severely retarded males with 46,XYq- karyotype. Nat Genet 8, 243–250 (1994). https://doi.org/10.1038/ng1194-243
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DOI: https://doi.org/10.1038/ng1194-243
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