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

Autor:	Jesús E. Dueñas-Arias, Eliakym Arámbula-Meraz, Julio Granados, Juliana B. Valenzuela-Camacho, Rosalío Ramos-Payán, Maribel Aguilar-Medina, Angelina Vega-Solano
Jazyk:	angličtina
Předmět:	Medicine(all) Pediatrics medicine.medical_specialty Polysomy business.industry lcsh:R lcsh:Medicine Aneuploidy Case Report Mosaic (geodemography) General Medicine medicine.disease medicine business
Zdroj:	Journal of Medical Case Reports Journal of Medical Case Reports, Vol 1, Iss 1, p 94 (2007)
ISSN:	1752-1947
DOI:	10.1186/1752-1947-1-94
Popis:	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.
Databáze:	OpenAIRE
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