The Somatic Chromosomes in Mongolism

An Opportune Life: 50 Years in Human Cytogenetics

“…In addition to our observation of the XXY male, we published our finding of an additional chromosome 21 in Down syndrome (referred to at the time as mongolism) (23), and this was done quite independently of Lejeune, Gautier & Turpin (31). Ford and his colleagues also published their observation of a 45,X constitution in a chromatin-negative female with Turner syndrome (11).…”

Innovations in Down Syndrome Screening

“…Therefore, he thought that a chromosomal abnormality such as nondisjunction was most likely to cause DS. Finally, in 1959, a few years after it had been established that human tissues normally contain 46 chromosomes, Lejeune and Jacobs independently discovered the presence of an extra chromosome in children with DS (Jacobs et al, 1959, Lejeune et al, 1959. Lejeune suggested, principally based on the Drosophila research, that the presence of an extra chromosome could well be explained in terms of non-disjunction.…”

Cinquantenaire de la trisomie 21

“…a été mis au courant des travaux de Patricia Jacobs qui venait de trouver dans le syndrome de Klinefelter un chromosome X surnuméraire [17,18]. Dès son retour, nous publions enfin, et cette fois en urgence, à l'Académie des Sciences, pour devancer inélégamment, en date, les équipes anglo-saxonnes [19]. Sans que j'aie pu encore voir les photos, sans avoir été informée de quoi que ce soit.…”