By Raymond Turpin, Jérôme Lejeune, P. Alexander and Z. M. Bacq (Auth.)
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Additional info for Human Afflictions and Chromosomal Aberrations
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Normal male. Karyotype 44A + XY. 36 HUMAN A F F L I C T I O N S AND CHROMOSOMAL ABERRATIONS FIG. 3. Normal female. Cell with 46 chromosomes. Note the association of two acrocentric chromosomes, 13 and 21, at the centre of the preparation. NORMAL HUMAN KARYOTYPE pi j V ft lift K it K « fl 10 11 12 13 14 15 U tt * 16 XI 17 X f t IS *X 19 20 4* M n W 22 — — Y FIG. 4. Normal female. Karyotype 44 A + XX. 38 HUMAN AFFLICTIONS AND CHROMOSOMAL ABERRATIONS The synchronous evolution of all the chromosomes of the same nucleus suggests that they all contract at the same time and in the same proportions.
In absolute terms in order to affirm that a chromosome has undergone a loss or increase in length it is neccessary that the difference between observation and the mean theoretical value is of the order of 10 per cent of the length of the element itself for large or medium chromosomes and of the order of 15-20 per cent for small ones. Another approach consists in comparing the two homologues of a pair recognized with certainty and in relating the difference in their length to the mean length of the pair.
T. ~. '. ••• 0. ,: : • 0& . . . ' . 6 . 7 65 44 HUMAN A F F L I C T I O N S AND CHROMOSOMAL ABERRATIONS outset that these two chromosome pairs are extremely similar. A mathematical analysis of the "density of points" per unit area may be considered; however, in view of the difficulties of this type of analysis we prefer to use a very simple optical procedure. A photographic negative of the point scatter is projected onto sensitive paper taking care to open the objective as far as possible and to bring the enlarger well out of focus.