Down Syndrome Research and Practice Volume 3 Number 1 Pages 9-13

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9 Introduction Lejeune et al, in 1959 were the first to demonstrate that Down syndrome was due to an abnormality of an extra chromosome in the G group. This was subsequently confirmed to be chromosome 21. Other studies followed demonstrating that the characteristic appearance of Down syndrome could also be due to other aberrations involving chromosome 21. These included Robertsonian translocations, usually 14/21 and 21/21 (Polani et al, 1960; Penrose et al, 1960), mosaicism (Clarke et al, 1961) and other mixoploids (Smith and Berg, 1976).

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تاریخ انتشار 1999