Table 4.
Inherited CNVs (N = 9)
| Case id | Pregnancy trimester | Clinical features | Array platform | Size (kb) | Chromosomal region | Inheritance | Start-end Mb position (Hg19) | CNV |
|---|---|---|---|---|---|---|---|---|
|
242 |
second |
Recurrent miscarriages, micrognatia |
250 k |
559 |
22q12.3 |
maternal |
31829608-32388222 |
gain |
|
257 |
second |
Unknown |
250 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 |