Case id | Pregnancy trimester | Clinical features | Array platform | Size (kb) | Chromosomal region | Inheritance | Start-end Mb position (Hg19) | CNV |
---|---|---|---|---|---|---|---|---|
242 | second | Recurrent miscarriages, micrognatia | 250Â k | 559 | 22q12.3 | maternal | 31829608-32388222 | gain |
257 | second | Unknown | 250Â k | 400 | 1p31.1 | maternal | 71586877-71986553 | gain |
272 | second | Hydrops fetalis, low-set ears, Pierre Robin Sequence (PRS) | CytoScan® HD | 303 | Xq24 | maternal | 118733984-119037053 | gain |
280 | second | Unknown | CytoScan® HD | 251 | 6q27 | paternal | 169570833-169822659 | gain |
281 | second | Mild facial dysmorfic features, hypertelorism, long philtrum | CytoScan® HD | 1,200 | 1q43 | maternal | 236830156-238009186 | gain |
289 | second | Agenesis of the corpus callosum (ACC), hydrops fetalis, ascites, mild ventriculomegaly | CytoScan® HD | 260 | 9q21.11 | maternal | 71570080-71842392 | gain |
316 | second | Unknown | CytoScan® HD | 367 | 16p13.3 | maternal | 5393095-5760407 | gain |
359 | second | None (recurrent miscarriages) | CytoScan® HD | 990 | 7q11.21 | paternal | 65329349-66417018 | gain |
65 | second | Unknown (macerated fetus) | CytoScan® HD | 294 | Xp22.31 | paternal | 8439472-8733564 | gain |