Published in:
Open Access
01-12-2007 | Case report
47,XXY/48,XXXY/49,XXXXY mosaic with hydrocephaly: a case report and review of the literature
Authors:
Jesús E. Dueñas-Arias, Maribel Aguilar-Medina, Eliakym Arámbula-Meraz, Juliana B. Valenzuela-Camacho, Angelina Vega-Solano, Julio Granados, Rosalío Ramos-Payán
Published in:
Journal of Medical Case Reports
|
Issue 1/2007
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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.