Table 4.
Detailed clinical features of undiagnosed carriers of clinically relevant large microdeletion or microduplications.
| Case ID | CNV ID | CNV data (hg19) | General parameters | Testicular and sperm parameters | Hormonal parameters | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Start (bp) | End (bp) | Size (Mb) | Age (yrs) | H (cm) | W (kg) | BMI (kg/m2) |
TTV (ml) | Semen vol (ml) | Sp conc | Sp count | FSH (IU/l) | LH (IU/l) | Total T (nmol/l) | ||
| MO1 | 1q21.1 del | 145,413,715 | 147,826,789 | 2.41 | 32 | 178 | 78 | 24.6 | 28 | 7.2 | 5.1 | 36.7 | 13.2 | 4.1 | 21.8 |
| SO1a | 7p22.2 dupl | 2,727,337 | 4,283,564 | 1.56 | 35 | 170 | 88 | 30.4 | 23 | 2.9 | 0.1 | 0.2 | 13.7 | 5.5 | 9.8 |
| SO2 | 3p26.3 dupl | 1,571,508 | 2,669,708 | 1.10 | 41 | 167 | 84 | 30.3 | 22 | 1.7 | 1.5 | 2.6 | 14.7 | 4.6 | 33.8 |
| SO3 | 10q11.22 dupl | 46,283,686 | 47,703,869 | 1.42 | 30 | 182 | 95 | 28.6 | 27 | 2.4 | 1.0 | 2.4 | 22.9 | 13.8 | 22.2 |
| MO2 | 10q11.22 dupl | 46,283,686 | 47,703,869 | 1.42 | 33 | 178 | 80 | 25.2 | 25 | 3.0 | 7.2 | 21.3 | 24.2 | 4.3 | 10.6 |
| SO4 | 10q11.22 dupl | 47,101,942 | 48,318,619 | 1.22 | 43 | 178 | 102 | 32.3 | 23 | 3.7 | 2.0 | 7.4 | 22.8 | 5.1 | 3.5 |
| NOA9 | Xp22.33 dupl | 1,853,035 | 4,151,086 | 2.30 | 28 | 191 | 90 | 24.7 | 45 | 5.8 | 0 | 0 | 21.1 | 3.5 | 17.4 |
aThe case also carried a large CNV at 14q32.33 which is likely to be a benign change (detailed in Supplementary Table S2).
FSH Follicle stimulating hormone, H Height, LH Luteinizing hormone, n.d. not documented, Sp conc Sperm concentration (× 106/ml), Sp count Sperm count (× 106/ per ejaculate), T Testosterone, TTV Total testis volume, bitesticular (left + right), W Weight.