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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

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.

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Title: 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
Publication date: 01-12-2007
Publisher: BioMed Central
Published in: Journal of Medical Case Reports / Issue 1/2007
Electronic ISSN: 1752-1947
DOI: https://doi.org/10.1186/1752-1947-1-94

At a glance: The STEP trials

Springer Medicine

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

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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