Aim. To describe the clinical and molecular genetic characteristics of Bloom syndrome (BS) patients in the Netherlands, in comparison with the international Bloom syndrome cohort as described in the Bloom's Syndrome Registry (BSR). Patients. For this study, all clinical genetic departments in the Netherlands were contacted, which identified 15 patients with Bloom syndrome. Of these patients, clinical and molecular genetic data were gathered and compared with the public available data of the BSR. Conclusions. We conclude that the prevalence of malignancies and non-insulin dependent diabetes mellitus in BS patients in the Netherlands seems to differ from patients from the BSR. We describe a malignancy (rhabdomyosarcoma) which has not previously been reported in relation to BS and report on two mutations that have not yet been described.
|Vertaalde titel van de bijdrage||Bloom syndrome in the Netherlands: Clinical review of a national cohort|
|Tijdschrift||Tijdschrift voor Kindergeneeskunde|
|Nummer van het tijdschrift||6|
|Status||Gepubliceerd - mrt. 2013|