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Genetic conditions in the Irish Roma gypsy population
S O'Connell1, K Butler, J McMenamin
1National Centre for Medical Genetics, Our Ladys Hospital for Sick Children, Dublin 12. susan.oconnell@tcd.ie
Abstract:
Roma gypsy represent a new Irish ethnic minority population with a distinct cultural and racial heritage. There is a strong Roma tradition of consanguinity, which can increase the likelihood of having a child affected by an autosomal recessive disorder. We describe 6 patients from the Roma community who had presented with 4 different autosomal recessive conditions not previously seen in the Irish population, Chronic Granulomatous Disease, HMSN-Russe, and two multiple malformation syndromes.
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