Fig. 2

Results of CMA for the probands of four unrelated Chinese families. Affymetrix cytoscan HD analysis including weighted log2 ratio (upper), copy number state (middle) and allele difference (lower) are shown for chromosome X. The result shows duplications at Xp11.22 in the probands of four unrelated Chinese families. The duplication region is denoted by a blue bar. In family 1, a 292 kb duplication at Xp11.22 with genomic coordinates 53,355,898-53,647,498 was detected in the proband (a). In family 2, a 564 kb duplication at Xp11.22 with genomic coordinates 53,428,070-53,992,238 was identified in the proband (b). In family 3, a 1.9 Mb duplication was detected at Xp11.22 with genomic coordinates 52,686,671-54,621,465 in the proband (c). In family 4, a 2.6 Mb duplication at Xp11.22 was revealed with genomic coordinates 52,923,471-55,551,584 in the proband (d)