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Table 4 Inherited CNVs (N = 9)

From: Best diagnostic approach for the genetic evaluation of fetuses after intrauterine death in first, second or third trimester: QF-PCR, karyotyping and/or genome wide SNP array analysis

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