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Table 4 Imbalances <10 Mb identified by array CGH which are not the cause of the pregnancy loss and or fetal abnormalities but are clinically significant

From: Efficient and cost-effective genetic analysis of products of conception and fetal tissues using a QF-PCR/array CGH strategy; five years of data

Region

No.

Size (Mb)

Parental follow-up

Charcot Marie Tooth del OMIM 118200

1

1.380

NR

STS del OMIM 300747

1

1.481

NR

Sotos del OMIM 117550

1

3.594

NR

SHOX del OMIM 312865

2

0.877 1.420

NR

22q dup syndrome OMIM 608363

3

1.492–3.157

Pat, NR, NR

MSH2 OMIM 609309

1

0.103

NR

nsCNV 8p23.3, 15q13.2q13.3, 16p13.11, 16p11.2, 16p13.11

9

0.365–3.643

3 pat, 2 mat, 2 DN, 2 NR

4p16.3x3 including the ZNF141 gene OMIM 194648

1

0.469

NR

15q25.2q25.3x3

1

3.018

DN

4q27x1 including the ANXA5 gene OMIM 131230

1

0.551

Mat

Unbalanced translocation between X and Y

1

3.505, 8.460

NA

STS dup OMIM 300747

2

1.575

NR, pat

Mosaic XXX and VOUS

1

1.211

NR

  1. nsCNV neurosusceptibility locus with reduced penetrance, NR not received (parental samples were requested but were not received). NA not applicable (parental samples were not requested as there was no indication for follow-up studies). DN de novo. VOUS variant of unknown significance