title: Fluorescence in-situ hybridisation and molecular studies used in the characterisation of a Robertsonian translocation (13q15q) in Prader-Willi syndrome.
abstract: A patient with classical Prader-Willi syndrome was found to have a Robertsonian translocation 45,XY,t(13q15q)mat. On CBG banding, the translocation chromosome had a large centromere with one primary constriction. Using fluorescence in situ hybridisation, positive signals were obtained with chromosome 13 and chromosome 15 centromere probes, proving that the translocation was dicentric. NOR banding was negative in this chromosome, suggesting that the breakpoints were at 13p11 and 15p11. DNA studies showed that, while there was no deletion involving 15(q11-13), maternal uniparental disomy for chromosome 15 was present. We compare our findings with the five other cases of familial Robertsonian translocation PWS that have been reported.
authors: Cytogenetics Laboratory, Children's Hospital, Camperdown, New South Wales, Australia.
authors: A
authors: A
authors: Smith
authors: L
authors: L
authors: Robson
authors: A
authors: A
authors: Neumann
authors: M
authors: M
authors: Mulcahy
authors: V
authors: V
authors: Chabros
authors: Z M
authors: ZM
authors: Deng
authors: T
authors: T
authors: Woodage
authors: R J
authors: RJ
authors: Trent
mesh_terms: D000328:Adult; D002871:Chromosome Banding; D002882:Chromosomes, Human, Pair 13; D002884:Chromosomes, Human, Pair 15; D015342:DNA Probes; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008677:Metaphase; D008856:Microscopy, Fluorescence; D011218:Prader-Willi Syndrome / Q000175:diagnosis / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D015342:DNA Probes