SummaryThe length of the Y chromosome was measured in 42 black patients with trisomy 21 (47,XY,+21) and a similar number of normal individuals of American black ancestry. The length of the Y was expressed as a function of Y/F ratio and arbitrarily classified into five groups using subjectively defined criteria as follows: very small, small, average, large, and very large. Thirty-eight % of the trisomy 21 patients had small or very small Ys compared to 2.38% of the controls (P < 0.01). In both populations the size of the Y was not normally distributed. In the normals it was skewed to the left, whereas in the Downs the distribution was flat (platykurtic). A significantly higher incidence of Y length heteromorphisms was noted in the Down as compared to the normal black population. In the light of our current understanding that about one-third of all trisomy 21 patients are due to paternal nondisjunction, it may be tempting to speculate that males with small Y are at an increased risk for nondisjunction of the 21 chromosome.
SpeculationThe present study suggests that one-third of trisomy 21 cases have small Y chromosome. Presently, it is believed that approximately one-third of all cases of Down Syndrome are due to "paternal" nondisjunction. Therefore, it is speculated that fathers with small Y chromosome might be at higher risk for nondisjunction for chromosome 21.were unrelated. Lymphocyte metaphases were obtained by a modification of the Moorhead technique (24). At least five to ten GTG (G-bands by Trypsin using Giemsa) (20) banded metaphases 'were from each specimen on high contrast copy film using a Zeiss photomicroscope 111.The four best banded cells were selected from each individual. Chromosomes 19, 20 and Y were directly measured from the negative by projecting the film using a Simmons Omega point light source enlarger (Simmons Omega Inc., N.Y., U.S.A.). The value of "F" was determined as the average length of the four F group chromosomes and the Y/F ratio was calculated for each cell. The final Y/F ratio for the individual was expressed as the average of four-cells. A test of significance ( t test) was performed to examine the differences in the two populations (21). there exists a north/south gradient for the length of the Y in The average length of the Y in ~ontrols and trisomy 21 patients Europeans; men of Mediterranean origin having a longer Y. The were 1.09 and 0.97, respectively; however, the length distribution biologic and clinical significance of human Y chromosome bet-in the controls was skewed to the left whereas in the patients it eromorphisms, however, are poorly understood (12). Although a Was platykuflic. Hence, to compare the average length of the Y longer Y has been reported in criminals (22), no length differences chromosome of one group to another was considered inapprowere observed between criminals and noncriminal controls in priate. several other studies (1,3,4,6,16,17). Consequently, no consistentThe length of the human Y ~h r~m o s o m e is arbitrarily classified relation between th...