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 |