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. 1992 Jun;65(6):903–907. doi: 10.1038/bjc.1992.189

MRI screening of kindred at risk of developing paragangliomas: support for genomic imprinting in hereditary glomus tumours.

A P van Gils 1, A G van der Mey 1, R P Hoogma 1, L A Sandkuijl 1, P D Maaswinkel-Mooy 1, T H Falke 1, E K Pauwels 1
PMCID: PMC1977751  PMID: 1616861

Abstract

Paragangliomas of the head and neck (glomus tumours) can occur in a hereditary pattern and may be hormonally active as well as being associated with paragangliomas elsewhere. A number of these tumours may be present without symptoms. To detect the presence of subclinical paragangliomas we screened 83 members of a family at risk of developing hereditary paragangliomas using whole body MRI and urinary catecholamine testing. In eight previously diagnosed members, eight known glomus tumours of which one functioning, and two unknown glomus tumours and one unknown pheochromocytoma were present. Six unsuspected members showed ten glomus tumours and one pheochromocytoma. It has been suggested that the manifestation of hereditary glomus tumours is determined by the sex of the transmitting parent. There were no tumours in the descendants of female gene carriers. Comparing the likelihood of inheritance with genomic imprinting versus inheritance without genomic imprinting we found an odds ratio of 23375 in favour of genomic imprinting.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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