Table 2.
Unexposed (n = 11) | Low exposed (n = 10) | Moderate exposed (n = 10) | High exposed (n = 10) | |||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Outcome | With anomaly (%) | p50 | Mean (range) | With anomaly (%) | p50 | Mean (range) | With anomaly (%) | p50 | Mean (range) | With anomaly (%) | p50 | Mean (range) | ||||||||||||
Total anomalies | 100 | 22.9 | 22.6 | (13.0–42.6) | 100 | 27.9 | 28.2 | (16.9–50.3) | 100 | 29.9 | 30.0 | (17.9–48.8) | 100 | 33.2 | 34.8 | (15.9–48.8) | ||||||||
Total structural aberrations | 100 | 12.9 | 12.8 | (6.9–19.0) | 100 | 15.4 | 17.1 | (11.0–26.6) | 100 | 19.4 | 17.9 | (11.0–23.9) | 100 | 21.4 | 21.2 | (11.9–32.9) | ||||||||
Total 1p36.3 & 1cen dup/del | 73 | 2.0 | 2.3 | (0.0–7.9) | 100 | 4.5 | 4.9 | (1.0–10.0) | 100 | 6.0 | 5.4 | (2.0–10.9) | 100 | 6.0 | 5.9 | (3.0–9.0) | ||||||||
Total dup | 64 | 1.0 | 1.9 | (0.0–6.9) | 100 | 2.5 | 3.7 | (1.0–10.0) | 100 | 3.5 | 3.9 | (1.0–8.9) | 100 | 4.0 | 3.9 | (1.0–6.0) | ||||||||
Total del | 36 | 0.0 | 0.4 | (0.0–2.0) | 60 | 1.0 | 1.2 | (0.0–4.0) | 80 | 1.5 | 1.5 | (0.0–3.0) | 100 | 1.0 | 2.0 | (1.0–5.0) | ||||||||
Total 1p36.3 dup/del | 64 | 1.0 | 1.3 | (0.0–5.0) | 100 | 2.5 | 3.4 | (1.0–9.0) | 90 | 3.5 | 3.3 | (0.0–5.0) | 100 | 4.0 | 4.3 | (2.0–8.0) | ||||||||
1p36.3 dup | 64 | 1.0 | 1.0 | (0.0–4.0) | 70 | 1.5 | 2.2 | (0.0–6.0) | 80 | 2.0 | 1.9 | (0.0–4.0) | 100 | 2.5 | 2.6 | (1.0–6.0) | ||||||||
1p36.3 del | 27 | 0.0 | 0.3 | (0.0–1.0) | 60 | 1.0 | 1.2 | (0.0–4.0) | 80 | 1.5 | 1.4 | (0.0–3.0) | 80 | 1.0 | 1.7 | (0.0–4.0) | ||||||||
Total 1cen dup/del | 55 | 1.0 | 1.1 | (0.0–3.0) | 60 | 1.5 | 1.5 | (0.0–4.0) | 80 | 1.5 | 2.1 | (0.0–6.9) | 90 | 1.0 | 1.6 | (0.0–4.0) | ||||||||
1cen dup | 45 | 0.0 | 0.9 | (0.0–3.0) | 60 | 1.5 | 1.5 | (0.0–4.0) | 70 | 1.5 | 2.0 | (0.0–6.9) | 60 | 1.0 | 1.3 | (0.0–4.0) | ||||||||
1cen del | 9 | 0.0 | 0.2 | (0.0–2.0) | 0 | 0.0 | 0.0 | (0.0–0.0) | 10 | 0.0 | 0.1 | (0.0–1.0) | 30 | 0.0 | 0.3 | (0.0–1.0) | ||||||||
Total breaks | 100 | 8.9 | 10.5 | (5.8–18.0) | 100 | 12.4 | 12.2 | (8.0–19.7) | 100 | 12.9 | 12.5 | (7.0–17.9) | 100 | 14.4 | 15.3 | (8.9–23.9) | ||||||||
1q12b | 100 | 3.0 | 4.0 | (1.0–13.0) | 70 | 3.5 | 4.1 | (0.0–11.0) | 100 | 4.5 | 4.9 | (1.0–9.0) | 100 | 7.9 | 7.7 | (3.0–12.9) | ||||||||
1cen-1q12c | 100 | 5.0 | 6.5 | (3.9–14.0) | 100 | 8.9 | 8.2 | (3.0–11.0) | 100 | 7.9 | 7.7 | (3.0–11.0) | 100 | 6.5 | 7.6 | (3.9–13.8) | ||||||||
Total numerical aberrations | 100 | 8.0 | 9.5 | (1.0–27.7) | 100 | 9.5 | 10.7 | (2.0–22.7) | 100 | 10.5 | 11.6 | (5.0–25.9) | 100 | 13.8 | 12.7 | (3.0–20.9) | ||||||||
Disomy 1 | 100 | 8.0 | 9.4 | (1.0–27.7) | 100 | 9.0 | 10.6 | (2.0–22.7) | 100 | 10.5 | 11.6 | (5.0–25.9) | 100 | 13.4 | 12.6 | (3.0–20.9) | ||||||||
Nullisomy 1 | 9 | 0.0 | 0.1 | (0.0–1.0) | 10 | 0.0 | 0.1 | (0.0–1.0) | 0 | 0.0 | 0.0 | (0.0–0.0) | 10 | 0.0 | 0.1 | (0.0–1.0) | ||||||||
Otherd | 18 | 0.0 | 0.3 | (0.0–2.0) | 40 | 0.0 | 0.4 | (0.0–1.0) | 40 | 0.0 | 0.4 | (0.0–1.0) | 50 | 0.5 | 0.9 | (0.0–4.0) | ||||||||
Abbreviations: del, deletions; dup, duplications; p50, median. aSperm structural and numerical defects were determined using the sperm ACM-FISH assay of chromosome 1. Frequencies per 10,000 sperm counted are reported. Percentage includes men with at least one sperm with this defect per 10,000 sperm analyzed. Median and mean frequencies include all participants, and men without a detected anomaly were assigned a value of zero. bBreaks within 1q12. cBreaks between 1cen and 1q12. d“Other” is defined as all anomalies not detailed above. |