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Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX
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Abstract
Tetrasomy X or 48,XXXX is a rare sex chromosome aneuploidy. The parental origin of tetrasomy X in a female patient with developmental delay was analyzed; all four X chromosomes were derived from the mother, and there were no paternally derived sex chromosomes. This finding indicates a rare incidental co-occurrence of maternal and paternal nondisjunction or polysomy rescue. The mechanism of 48,XXYY, which is related to developmental delay in males, was analyzed for comparison.
Springer Science and Business Media LLC
Title: Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX
Description:
Abstract
Tetrasomy X or 48,XXXX is a rare sex chromosome aneuploidy.
The parental origin of tetrasomy X in a female patient with developmental delay was analyzed; all four X chromosomes were derived from the mother, and there were no paternally derived sex chromosomes.
This finding indicates a rare incidental co-occurrence of maternal and paternal nondisjunction or polysomy rescue.
The mechanism of 48,XXYY, which is related to developmental delay in males, was analyzed for comparison.
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