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Table 2 The results of aCGH per chromosome

From: Submicroscopic chromosomal imbalances contribute to early abortion

Chromosome

Patients

The results of aCGH

References

Number of CNVs

2

14, 15

14: chr2, 24.02 M 2p partial trisomy syndrome pathogenicity unknown; 15: chr2, 82.08 M 2q terminal duplication syndrome.

2

4

15

Chr4, 6.92 M 4q terminal deletion syndrome.

[27]

1

5

14

Chr5, 380 K deletion, pathogenicity unknown.

1

6

2

Arr6, 17.20 M deletion syndrome.

1

7

9

Chr7, 520 K deletion syndrome.

1

8

14

Chr8, 7.94 M deletion syndrome, Cornelia de Lange syndrome; Chr8, 12.12 M duplication, pathogenicity unknown.

[28]

1

9

8

Chr9, 2.18 M, deletion syndrome.

[29]

1

12

9

Chr12, 34.66 M 12p duplication syndrome.

1

15

11

Chr15, 6.38 M, deletion syndrome, Prader-Willi syndrome, Angelman syndrome.

1

16

1, 10, 13

1: chr16, 13.84 M terminal duplication syndrome; 10: chr16, 13.84 M 16q terminal duplication syndrome; 13: chr16, 13.9 M 16q terminal duplication syndrome.

3

18

1, 10, 12, 13

1: chr18, 22 M deletion syndrome; 10: chr18, 22 M 18q deletion syndrome; 12: chr18, 1.5 M 18q terminal duplication, pathogenicity unknown; chr18, 8.64 M 18q terminal duplication syndrome;

13: chr18,21.94 M 18q deletion syndrome.

[30]

4

19

3

Chr 19 uniparental disomy.

1

22

4, 5, 6, 7

4: chr22, 2.52 M 22q11 deletion syndrome (Velocardiofacial/DiGeorge syndrome); 5: chr22, 2.58 M 22q11 deletion syndrome (Velocardiofacial/DiGeorge syndrome); 6: chr22, 3.68 M deletion syndrome Waardenburg syndrome; 7: chr22, 2.94 M 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome).

[31]

4

  1. “-” means no investigation by others