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 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.
Dueñas-Arias
Jesús E
JE
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.
Aguilar-Medina
Maribel
M
Arámbula-Meraz
Eliakym
E
Valenzuela-Camacho
Juliana B
JB
Vega-Solano
Angelina
A
Granados
Julio
J
Ramos-Payán
Rosalío
R