title: 47,XXY/48,XXXY/49,XXXXY mosaic with hydrocephaly: a case report and review of the literature.
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.
authors: Laboratorio de Inmunología y Biología Molecular, Doctorado en Biotecnología, Facultad de Ciencias Químico Biológicas, Universidad Autónoma de Sinaloa, Culiacán, Sinaloa, México. ramospayan@yahoo.com.mx.
authors: Jesús E
authors: JE
authors: Dueñas-Arias
authors: Maribel
authors: M
authors: Aguilar-Medina
authors: Eliakym
authors: E
authors: Arámbula-Meraz
authors: Juliana B
authors: JB
authors: Valenzuela-Camacho
authors: Angelina
authors: A
authors: Vega-Solano
authors: Julio
authors: J
authors: Granados
authors: Rosalío
authors: R
authors: Ramos-Payán