Chacón-Camacho Oscar Francisco, Benitez-Granados Jesús, Zenteno Juan Carlos
Unidad de Investigación, Departamento de Genética, Instituto de Oftalmología Conde de Valenciana, México, DF.
Ginecol Obstet Mex. 2013 Apr;81(4):206-10.
Von Hippel-Lindau syndrome is an autosomal dominant and familial multisystemic syndrome that is caused by the inactivation of the VHL gene and it is characterized by diverse types of high vasculated tumors of benign and malign nature. This paper reports the clinical characteristics and prenatal diagnosis of a woman with von Hippel-Lindau syndrome, who constitutes the first exclusion prenatal case by DNA analysis of the Von Hippel-Lindau syndrome in Latin-American population.
冯·希佩尔-林道综合征是一种常染色体显性遗传性家族性多系统综合征,由VHL基因失活引起,其特征为多种类型的良性和恶性高血管性肿瘤。本文报告了一名患有冯·希佩尔-林道综合征女性的临床特征及产前诊断情况,该病例是拉丁美洲人群中通过对冯·希佩尔-林道综合征进行DNA分析排除的首例产前病例。