title: Genetic conditions in the Irish Roma gypsy population.
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.
authors.affiliation: National Centre for Medical Genetics, Our Ladys Hospital for Sick Children, Dublin 12. susan.oconnell@tcd.ie
authors.forename: S
authors.initials: S
authors.lastname: O'Connell
authors.forename: K
authors.initials: K
authors.lastname: Butler
authors.forename: J
authors.initials: J
authors.lastname: McMenamin
authors.forename: M
authors.initials: M
authors.lastname: Waldron
authors.forename: A J
authors.initials: AJ
authors.lastname: Green
mesh_terms: D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D030342:Genetic Diseases, Inborn / Q000453:epidemiology / Q000208:ethnology*; D006801:Humans; D007231:Infant, Newborn; D007494:Ireland / Q000453:epidemiology; D008297:Male; D010375:Pedigree; D006178:Romani People