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Autor:
Melanie April Pritchard, Josep Pujals, Antonio Mur, Jean-Louis Blouin, Francesca Ballesta, Xavier Estivill, Stylianos E. Antonarakis, Montserrat Milà, Marga Nadal
Publikováno v:
Human Genetics, Vol. 98, No 4 (1996) pp. 460-466
Most cases of Down syndrome (DS) result from a supernumerary chromosome 21; however, there are rare cases in which DS is due to partial trisomy of chromosome 21, involving various segments of the chromosome. The characterization of cases of DS that a