Table 1 The results of aCGH in 15 patients

1

Chr16: (76,320,001–90,160,000) X3,13.84 M, 16q terminal duplication syndrome; Chr18: (56,020,001–78,020,000) × 1, 22 M, 18q deletion syndrome.

2

Chr 6p25.3-p22.3 (347,038–17,543,199) x1, 17.20 M deletion syndrom.

3

Chr 19 uniparental disomy.

4

Chr22: (18,900,001–21,420,000) X1, 2.52 M, 22q11 deletion syndrome (Velocardiofacial/DiGeorge syndrome).

5

Chr22: (18,880,001–21,460,000) X1, 2.58 M, 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome).

6

Chr22: (35,420,001–39,100,000)X1, 3.68 M, Waardenburg syndrome.

7

Chr22: (18,880,001–21,820,000) X1, 2.94 M, 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome).

8

Chr9: (130,900,001–133,080,000) X1, 2.18 M.

9

Chr7: (64,680,001–65,200,000) X1, 520 K, deletion syndrome; Chr12: 160,001–34,820,000) X3, 34.66 M, 12p duplication syndrome.

10

Chr16: (76,320,001–90,160,000) X3, 13.84 M, 16q terminal duplication syndrome; Chr18: (56,020,001–78,020,000) X1, 22 M, 18q deletion syndrome.

11

Chr15: (22,740,001–29,120,000) X1, 6.38 M, Prader-Willi syndrome, Angelman syndrome.

12

Chr18: (66,540,001–68,040,000) X3, 1.5 M, duplication, pathogenicity unknown; Chr18: (68,760,001–77,400,000) X3, 8.64 M, 18q terminal duplication syndrome.

13

Chr16: (76,260,001–90,160,000) X3, 13.9 M, 16q terminal duplication syndrome; Chr18: (56,080,001–78,020,000) X1, 21.94 M, 18q deletion syndrome.

14

Chr2: (1–24,020,000) X3, 24.02 M, 2p partial trisomy syndrome; Chr5: (19,080,001–19,460,000) X1, 380 K, deletion, pathogenicity unknown; Chr8: (160,001–8,100,000) X1, 7, 94 M, deletion syndrome Cornelia de Lange syndrome; Chr8: (12,540,001–24,660,000) X3, 12.12 M, duplication; pathogenicity unknown.

15

Chr2: (160,940,001–243,020,000) X3, 82.08 M, 2q terminal duplication syndrome; Chr4: (184,020,001–190,940,000) X1, 6.92 M, 4q terminal deletion syndrome.