47,XXY/48,XXXY/49,XXXXY mosaic with hydrocephaly: a case report and review of the literature-Reference-Cited by-同舟云学术

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

Published:2007-09-19 Issue:1 Volume:1 Page:
ISSN:1752-1947
Container-title:Journal of Medical Case Reports
language:en
Short-container-title:J Med Case Reports

Author:

Dueñas-Arias Jesús E.,Aguilar-Medina Maribel,Arámbula-Meraz Eliakym,Valenzuela-Camacho Juliana B.,Vega-Solano Angelina,Granados Julio,Ramos-Payán Rosalío

Abstract

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.

Publisher

Springer Science and Business Media LLC

Subject

General Medicine

Link

http://link.springer.com/content/pdf/10.1186/1752-1947-1-94.pdf

Reference11 articles.

1. Visootsak J, Graham JM: Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis. 2006, 24: 42-10.1186/1750-1172-1-42.

2. Jacobs PA, Strong JA: A case of human intersexuality having possible XXY sex-determining mechanism. Nature. 1959, 2: 164-167.

3. Klinefelter HF, Reifenstein EC, Albright F: Syndrome characterized by gynecomastia aspermatogenes without A-Leydigism and increased excretion of follicle stimulating hormone. J Clin Endocrinol Metab. 1942, 2: 615-627.

4. Hirschhorn K, Hirschhorn R, Fraccaro M, Book JA: Incidence of familial hyperlipemia. Science. 1959, 129: 716-7. 10.1126/science.129.3350.716.

5. Fraccaro M, Kaijser K, Lindsten J: A child with 49 chromosomes. Lancet. 1960, 2: 899-902. 10.1016/S0140-6736(60)91963-2.

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