[Prenatal exclusion of von Hippel-Lindau syndrome in a Mexican family carrying a novel VHL gene mutation].

Abstract

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.

• Authors: Oscar Francisco Chacón-Camacho, Jesús Benitez-Granados, Juan Carlos Zenteno
• Journal: Ginecologia y obstetricia de Mexico (Ginecol Obstet Mex) Vol. 81 Issue 4 Pg. 206-10 (Apr 2013) ISSN: 0300-9041 [Print] Mexico
• Vernacular Title: Exclusión prenatal del sindrome de von Hippel-Lindau en una familia Mexicana con una mutación nueva en el gen VHL.
• PMID: 23720934 (Publication Type: Case Reports, Journal Article)

Chemical References

• Von Hippel-Lindau Tumor Suppressor Protein
• VHL protein, human

Topics

• Female
• Humans
• Mexico
• Mutation
• Pedigree
• Pregnancy
• Prenatal Diagnosis
• Von Hippel-Lindau Tumor Suppressor Protein (genetics)
• Young Adult
• von Hippel-Lindau Disease (diagnosis, genetics)