Table 1
Patients, reasons for referral, karyotypes, array CGH results, and comparison with the original results
| Patient | Reason for referral | Original results | Array CGH results |
|---|---|---|---|
| del, deletion; dup, duplication | |||
| 1 | short stature, mental retardation, steroid sulphatase deficiency | karyotype: 46, XY, del(X)(pterp22.31)19 | del 65 clones (≈6 Mb) on Xpter–Xp22.31 |
| 2 | short stature, brachycephaly, frontal bossing, hypertelorism, ventricular septal defect | karyotype: 46, XY, t(X;Y)(p22.3;q11.2), del(X)(pterp22.3) (T Kleefstra, personal communication) | del 32 clones (≈2.5 Mb) on Xpter–Xp22.33 |
| 3 | X linked mixed deafness, choroideremia, mental retardation | karyotype: 46, XY, del(Xq21), ≈4 Mb deletion Xq2120 | del 43 clones (≈3.8 Mb) on Xq21.1–Xq21.31 |
| 4 | mother of patient with moderate mental retardation, hypogonadism, borderline thyroid function, behavioral problems | karyotype: 46, XX, dup(X)(q26q27) (C Gardiner, personal communication) | dup 97 clones (≈9.2 Mb) on Xq26.3–Xq27.3 |
| 5 | Norrie disease | karyotype: 46, XY, 150 kb deletion Xp11.321 | del 2 clones (≈250 kb) in Xp11.3 |
| 6 | Pelizaeus-Merzbacher disease | karyotype: 46, XY, duplication PLP1 gene (E Sistermans, personal communication) | dup 3 clones (≈680 kb) in Xq22 |
| 7 | X linked mixed deafness | karyotype: 46, XY, inv(X)(q13.1q21.2), 700 kb deletion Xq2120,22,23 | del 2 clones (≈260 kb) in Xq13; del 4 clones (≈840 kb) in Xq21 |
| 8 | X linked mixed deafness | karyotype: 46, XY, inv(X)(q21.1q21.3), 150 kb duplication Xq21.124 | dup 2 clones (≈265 kb) in Xq21.1; dup 4 clones (≈240 kb) in Xq21.3 |
| 9 | FG syndrome | karyotype: 46, XY, inv(X)(q11q28)25 | dup 2 clones (≈360 kb) in Xq11; dup 4 clones (≈230 kb) in Xq28 |
