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- W2099451421 abstract "Editor—Von Hippel-Lindau (VHL) disease is an autosomal dominant disorder characterised by a predisposition to develop a wide variety of benign tumours and malignant neoplasms, most frequently haemangioblastomas of the cerebellum and spinal cord, retinal haemangioblastomas, phaeochromocytomas, renal cysts, and clear cell carcinomas, pancreatic cysts and tumours, epididymal cystadenomas, and endolymphatic sac tumours.1-3 The combination of affected organs and the sequence of organ involvement vary considerably among families and even among individual patients in a family. Two types of families may, however, be distinguished according to the presence or absence of phaeochromocytoma.4 Central nervous system haemangioblastoma remains the main cause of death although renal cell carcinoma could represent a major problem in the future.5 Recent progress in research methods will render possible the identification of VHL gene mutations in virtually all families.6 Between 1995 and 1997, we have evaluated the views of 24 women aged 20 to 41 and 17 men aged 20 to 50 with VHL about presymptomatic genetic diagnosis in their children as well as prenatal diagnosis and termination of pregnancy. All were informed of the hereditary nature of their disease. Patients, having previously agreed over the telephone, were interviewed in the French VHL Care Centre (Necker Hospital in Paris and Kremlin-Bicetre Hospital) where they were currently being followed. It was decided to have a full discussion with each subject after completion of the questionnaire, but not to interrupt its completion or correct erroneous answers immediately. The oral discussion allowed us not to ask a specific question, or even to interrupt the interview, if the patient showed a strong emotional reaction. All were included in the national French VHL register which includes 650 patients to date. Family pedigrees and medical records were reviewed.The participants belonged to 34 families. In 28 families, one …" @default.
- W2099451421 created "2016-06-24" @default.
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- W2099451421 date "2000-06-01" @default.
- W2099451421 modified "2023-10-10" @default.
- W2099451421 title "Attitudes of von Hippel-Lindau disease patients towards presymptomatic genetic diagnosis in children and prenatal diagnosis" @default.
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- W2099451421 doi "https://doi.org/10.1136/jmg.37.6.476" @default.
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