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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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
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author Dueñas-Arias, Jesús E
Aguilar-Medina, Maribel
Arámbula-Meraz, Eliakym
Valenzuela-Camacho, Juliana B
Vega-Solano, Angelina
Granados, Julio
Ramos-Payán, Rosalío
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
collection PubMed
description 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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spelling pubmed-20401522007-10-23 47,XXY/48,XXXY/49,XXXXY mosaic with hydrocephaly: a case report and review of the literature Dueñas-Arias, Jesús E Aguilar-Medina, Maribel Arámbula-Meraz, Eliakym Valenzuela-Camacho, Juliana B Vega-Solano, Angelina Granados, Julio Ramos-Payán, Rosalío J Med Case Reports Case Report 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. BioMed Central 2007-09-19 /pmc/articles/PMC2040152/ /pubmed/17880714 http://dx.doi.org/10.1186/1752-1947-1-94 Text en Copyright © 2007 Dueñas-Arias et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
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
title 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_short 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
topic Case Report
url 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
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