| 1 | f | 21 | ≥37 | 2500 | Iq21.1-q21.2 | chr 1:(146564743-147786706)xl | 1200 | lq21.1 microdeletion syndrome, #612474 | failure to thrive, microcephaly, DD |
| 2 | m | 19 | 38 | 2080 | 2p25.3 | chr2:(1842071-2246200)x3 | 404 |
| Microcephaly, DD |
| 3 | f | 1 | 38 | 1860 | 3q22.l-q29 | chr3:(133562250-197840339)x3 | 64280 |
| congenital heart anomaly, cleft palate |
| 4 | m | 1 | ≥37 |
| 7p15.3-p14.3 | chr7:(20993642-30739239)xl | 9750 |
| severe FGR, renal hypoplasia, ASD, shortened long bones, facial dysmorphism |
| 5 | m | 32 | ≥37 | 2350 | 7qll.23 | chr7:(72726578-74139390)xl | 1412 | Williams, #194050 | DD, facial dysmorphism |
| 6 | m | 29 | ≥37 | 2360 | 7qll.23 | chr7:(72726578-74139390)xl | 1412 | Williams, #194050 | DD, gastroesophageal reflux disease, pulmonary artery stenosis |
| 7 | f | 2 | ≥37 |
| 7qll.23 | chr7:(72726578-74139390)xl | 1412 | Williams, #194050 | pulmonary artery stenosis |
| 8 | m | 24 | 38 | 2700 | 7qll.23 22qll.21 | chr7:(72726578-74139390)x3 chr22:(18919942-21440514)xl | 1412 2520 | 7qll.23 microduplication, #609757 DiGeorge, #188400 | DD, palatoschisis, hydronephrosis |
| 9 | m | 1 | 39 | 2230 | 7q35-q36.3 16q24.1-q24.3 | chr7:(143425418-158909738)xl chr16:(86743412-90 111263)x3 | 15480 3370 |
| Microcephaly, hypotropia, facial dysmorphism |
| 10 | m | 1 | ≥37 |
| 9p24.3-p22.3 19q13,33-q13.43 | chr9:(271257-14956477)xl chr19:(50380618-59092570)x3 | 14685 8710 |
| facial dysmorphism, shortened long bones,cryptorchidisam cryptorchidism hypospadias |
| 11 | f | 29 | 31/32 | 1150 | 15q26.2-q26.3 | chr15:(94447479-l02383473)xl | 7940 | Drayer sy, #612626 | DD,ASD, VSD, VUR, short stature |
| 12 | m | 1 | ≥37 | 1850 | 16p13.11 | chr16:(14910205-16525348)xl | 1600 | 16p13.11 microdeletion syndrome | Hypotrophy, hypotonia, facial dysmorphism |
| 13 | f | 121 | ≥37 | 2650 | 15qll.2 - q13.1 | chr15:(22765628-29085896)xl | 6300 | Prader-Willi, #176270 | DD/ID, obesity, brachydactyly |
| 14 | f | 1 | 39 | 2020 | 17p13.3-p13.2 | chr17:(51885-3882 130)xl | 3830 | Miller-Dieker, #247200 | VSD, aberrant brain MRI findings |
| 15 | m | 11 | 38 | 2080 | 17q21.31 | chr17:(43717703-44159862)xl | 442 | Koolen de Vries, #610443 | DD, neonatal hypothroidism microcephaly, colon perforation |
| 16 | f | 132 | ≥37 |
| 19p13.2-p13.12 | chr19:(12474346-14485846)x3 | 2010 |
| microcephaly, ASD, short stature, learning difficulties |
