Table 1.
Patients with CAA, Karyotypes, and Results of Chromosome-18 Profiling by ArrayCGH
| Patient | CAAa | Conventional Karyotype | ArrayCGH-Based Karyotype |
| 1 | NAC | 46,XY,del(18)(q21.2) | del(18)(q21.31)b |
| 2 | NAC | 46,XY,del(18)(q21.3) in 75% of cells | del(18)(q21.31)b |
| 3 | NAC | 46,XX,del(18)(q21.31) | del(18)(q21.31) |
| 4 | NAC | 46,XX,del(18)(q21.31) | del(18)(q21.31) |
| 5 | NAC | 46,XY,del(18)(q21.31) | del(18)(q21.31) |
| 6 | MA | 46,XY,del(18)(q21.31) | del(18)(q21.31) |
| 7 | NAC | 46,XY,r(18)(p11q21.31) | del(18)(q21.31) |
| 8 | NAC | 46,XX,del(18)(q21.3) | del(18)(q21.32)b |
| 9 | MA | 46,XX,r(18)(pterq23) | del(18)(q21.32)b |
| 10 | NAC | 46,XY,del(18)(q21.3) | del(18)(q21.33)b |
| 11 | NAC | 46,XY,del(18)(q22) | del(18)(q22.1)b |
| 12 | MA | 46,XX,del(18)(q22.1) | del(18)(q22.1) |
| 13 | NAC | 46,XX,del(18)(q22.3) | del(18)(q22.1)b |
| 14 | NAC | 46,XX,del(18)(q22.1) | del(18)(q22.1) |
| 15 | NAC | 46,X,del(X)(q21.2), der(18)t(X :18)(q21.2;q22) | del(18)(q22.3)b |
| 16 | MA | 46,XY,del(18)(q22.2) | del(18)(q22.3)b |
| 17 | NAC | 46,XX,r(18)(p11q23) | del(18)(p11.21) + del(18)(q22.3)b |
| 18 | MA | 46,XY,der(7)t(7;18)(q36.1;q23),der(18)(pter→q23::p11.2→ pter) | gain(18)(p11.21) + del(18)(q22.3q23)b |
| 19 | MA | 46,XY,del(18)(q21.3) in 33% of cells | No copy-number change detected |
| 20 | MA | 46,XXc | del(18)(q22.3)b |
a
NAC = narrow external auditory canals; MA = meatus atresia.
b
Cases in which arrayCGH refined the initial cytogenetic diagnosis.
c
Julia et al. 2002.