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

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

<p>Abstract</p> <p>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 F...

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Main Authors: Dueñas-Arias Jesús E, Aguilar-Medina Maribel, Arámbula-Meraz Eliakym, Valenzuela-Camacho Juliana B, Vega-Solano Angelina, Granados Julio, Ramos-Payán Rosalío
Format: Article
Language:English
Published: BMC 2007-09-01
Series:Journal of Medical Case Reports
Online Access:http://www.jmedicalcasereports.com/content/1/1/94
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spelling doaj-e420ec9335b74de9be21c8e75b9692a72020-11-25T02:19:31ZengBMCJournal of Medical Case Reports1752-19472007-09-01119410.1186/1752-1947-1-9447,XXY/48,XXXY/49,XXXXY mosaic with hydrocephaly: a case report and review of the literatureDueñas-Arias Jesús EAguilar-Medina MaribelArámbula-Meraz EliakymValenzuela-Camacho Juliana BVega-Solano AngelinaGranados JulioRamos-Payán Rosalío<p>Abstract</p> <p>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.</p> http://www.jmedicalcasereports.com/content/1/1/94
collection DOAJ
language English
format Article
sources DOAJ
author Dueñas-Arias Jesús E
Aguilar-Medina Maribel
Arámbula-Meraz Eliakym
Valenzuela-Camacho Juliana B
Vega-Solano Angelina
Granados Julio
Ramos-Payán Rosalío
spellingShingle Dueñas-Arias Jesús E
Aguilar-Medina Maribel
Arámbula-Meraz Eliakym
Valenzuela-Camacho Juliana B
Vega-Solano Angelina
Granados Julio
Ramos-Payán Rosalío
47,XXY/48,XXXY/49,XXXXY mosaic with hydrocephaly: a case report and review of the literature
Journal of Medical Case Reports
author_facet Dueñas-Arias Jesús E
Aguilar-Medina Maribel
Arámbula-Meraz Eliakym
Valenzuela-Camacho Juliana B
Vega-Solano Angelina
Granados Julio
Ramos-Payán Rosalío
author_sort Dueñas-Arias Jesús E
title 47,XXY/48,XXXY/49,XXXXY mosaic with hydrocephaly: a case report and review of the literature
title_short 47,XXY/48,XXXY/49,XXXXY mosaic with hydrocephaly: a case report and review of the literature
title_full 47,XXY/48,XXXY/49,XXXXY mosaic with hydrocephaly: a case report and review of the literature
title_fullStr 47,XXY/48,XXXY/49,XXXXY mosaic with hydrocephaly: a case report and review of the literature
title_full_unstemmed 47,XXY/48,XXXY/49,XXXXY mosaic with hydrocephaly: a case report and review of the literature
title_sort 47,xxy/48,xxxy/49,xxxxy mosaic with hydrocephaly: a case report and review of the literature
publisher BMC
series Journal of Medical Case Reports
issn 1752-1947
publishDate 2007-09-01
description <p>Abstract</p> <p>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.</p>
url http://www.jmedicalcasereports.com/content/1/1/94
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AT aguilarmedinamaribel 47xxy48xxxy49xxxxymosaicwithhydrocephalyacasereportandreviewoftheliterature
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