{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T15:45:21Z","timestamp":1762098321287,"version":"build-2065373602"},"reference-count":29,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1996,5]]},"abstract":"<jats:p>Hereditary glomus tumour (MIM 168,000) or paraganglioma (PGL) is a slowly progressive disorder causing benign tumour growth predominantly in the head and neck region. Though benign in nature the tumours can lead to severe morbidity. Inheritance of PGL is autosomal dominant and is strongly modified by genomic imprinting; only a paternally transmitted PGL gene leads to symptoms. A gene for PGL has recently been mapped to 11q22.3-q23. Genetic counselling on the basis of DNA linkage diagnosis was offered in an extended Dutch pedigree. Thirty-two subjects opted for further counselling, of whom 20 applied for DNA testing and participated in a standardised protocol. Sixteen cases had presymptomatic testing (paternal allele); four of these appeared to have the at risk haplotype and in two of them a glomus tumour was subsequently detected on MRI. In one case linkage results were inconclusive (recombination) and one person did not want to learn his test result. Four cases had testing for carrier status (maternal allele) of which one appeared to be a carrier. Our data show that genetic counselling gains significant accuracy when based on parent of origin, sex of the counsellee, and DNA linkage diagnosis. Moreover, a normal DNA result may prevent unnecessary worry and investigations, while an established presymptomatic diagnosis will guide adequate clinical management. The psychological impact of counselling and predictive DNA testing is unclear as yet. Further investigations into the natural history of PGL in gene carriers and into the psychological impact of DNA testing is desirable.<\/jats:p>","DOI":"10.1136\/jmg.33.5.379","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"379-383","source":"Crossref","is-referenced-by-count":43,"title":["First experiences with genetic counselling based on predictive DNA diagnosis in hereditary glomus tumours (paragangliomas)."],"prefix":"10.1136","volume":"33","author":[{"given":"J C","family":"Oosterwijk","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J C","family":"Jansen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E M","family":"van Schothorst","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A W","family":"Oosterhof","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Devilee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Bakker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M W","family":"Zoeteweij","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A G","family":"van der Mey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1996,5,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1002\/1097-0142(197702)39:2<397::AID-CNCR2820390205>3.0.CO;2-C","article-title":"Paragangliomas of the head and neck region. 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