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Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX.

Keiko Shimojima YamamotoSakurako YamamotoTaichi ImaizumiSatoko KumadaToshiyuki Yamamoto
Published in: Human genome variation (2024)
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.
Keyphrases
  • birth weight
  • pregnancy outcomes
  • case report
  • gestational age
  • copy number
  • pregnant women
  • gene expression
  • body mass index
  • physical activity
  • clinical evaluation