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

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...

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Detalles Bibliográficos
Autores principales: Dueñas-Arias, Jesús E, Aguilar-Medina, Maribel, Arámbula-Meraz, Eliakym, Valenzuela-Camacho, Juliana B, Vega-Solano, Angelina, Granados, Julio, Ramos-Payán, Rosalío
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2007
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2040152/
https://www.ncbi.nlm.nih.gov/pubmed/17880714
http://dx.doi.org/10.1186/1752-1947-1-94
Descripción
Sumario: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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