Genetic conditions in the Irish Roma gypsy population.
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.
O'Connell
S
S
National Centre for Medical Genetics, Our Ladys Hospital for Sick Children, Dublin 12. susan.oconnell@tcd.ie
Butler
K
K
McMenamin
J
J
Waldron
M
M
Green
A J
AJ
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