Dueñas-Arias Jesús E, Aguilar-Medina Maribel, Arámbula-Meraz Eliakym, Valenzuela-Camacho Juliana B, Vega-Solano Angelina, Granados Julio, Ramos-Payán Rosalío
Laboratorio de Inmunología y Biología Molecular, Doctorado en Biotecnología, Facultad de Ciencias Químico Biológicas, Universidad Autónoma de Sinaloa, Culiacán, Sinaloa, México.
J Med Case Rep. 2007 Sep 19;1:94. doi: 10.1186/1752-1947-1-94.
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.
克兰费尔特综合征是男性常见的遗传性性发育异常，与47,XXY非整倍体相关。几种综合征变体由不同的X和Y多体性及嵌合体引起，包括一些作者描述为弗拉卡罗综合征的49,XXXXY情况。具有三种或更多不同染色体谱系的嵌合体非常罕见。在此，我们描述了一例新生儿XXY/XXXY/XXXXY嵌合体病例，其具有弗拉卡罗综合征的临床特征，但同时伴有梗阻性脑积水，此前未见报道。
