Journal of Medical Case Reports (Sep 2007)

47,XXY/48,XXXY/49,XXXXY mosaic with hydrocephaly: a case report and review of the literature

  • Dueñas-Arias Jesús E,
  • Aguilar-Medina Maribel,
  • Arámbula-Meraz Eliakym,
  • Valenzuela-Camacho Juliana B,
  • Vega-Solano Angelina,
  • Granados Julio,
  • Ramos-Payán Rosalío

DOI
https://doi.org/10.1186/1752-1947-1-94
Journal volume & issue
Vol. 1, no. 1
p. 94

Abstract

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Abstract Klinefelter's syndrome is a frequent genetic sexual alteration in males, associated with the 47,XXY aneuploidy. Several syndrome variants are caused by different X and Y polysomy and mosaicisms, including the 49,XXXXY condition described by some authors as Fraccaro's syndrome. Mosaics with three or more different chromosomal lines are very rare. Here, we describe a case with XXY/XXXY/XXXXY mosaic in a newborn with clinical features of Fraccaro's syndrome, but also with obstructive hydrocephaly which has not been reported previously.