Table 7 Array comparative genome hybridisation results in 16 patients with complex chromosomal rearrangements
Patient (total no of breakpoints before and after array CGH)Deleted regionsNon-deleted probe (Mb)Deletion start (Mb)Deletion end (Mb)Non-deleted probe (Mb)Deletion size (Mb)
42 (5,7)del(13)(q14.11)37.8238.04941.5441.693.5
43 (3,4)del(4)(q31.21)144.7144.8147.18147.282.38
44 (8,9)del(X)(p21.1)32.3732.4233.4733.811
45 (4,6)del(18)(q12.3)37.437.538.438.50.9
46 (4, 6)del(5)(q22.2)110.5110.6112.95113.582.35
47 (10,14)del(4)(q32.3)167.63168.02169.57169.651.55
del(11)(p11.2)46.1946.2646.8346.910.57
48 (6,7)del(4)(pter-p15.1)35.1335.3135
49 (6,9)del(4)(q34.1)172.97173.18175.63175.782.45
del(4)(q34.3)178.93179.23179.83180.110.6
50 (5,7)del(6)(q21)108108.31111.53111.773.22
del(11)(q14.3q21)88.3288.649494.175.36
51 (4,6)del(1)(p21.1)103.05103.2106.3106.53.1
del(2)(q32.1)181.94182.1184.9184.382.8
52 (3,6)del(1)(p31.3)63.4563.5469.3769.765.83
del(4)(q24)103.72103.84105.5105.71.66
del(7)(p21.3)8.418.5610.7510.852.19
53 (7,14)del(3)(pter-p26.1)4.324.384.3
del(4)(q21.3–q22.1)87.4487.9190.1590.312.2
del(8)(q21.11)76.0876.4778.5278.802.1
del(9)(q31.1q31.2)103.78103.94106.24106.422.6
55 (4,6)del(6)(q13–q14.1)74.4274.4677.9178.223.5
57 (10,15)del(3)(p12.3–p12.1)76.6377.2984.7385.047.44
58 (4,8)del(5)(q33.3q35.1)156.06156.28169.08169.6013.0
del(6)(q16.1)97.3597.4598.7399.251.2
del(6)(q25.2)152.55152.84155.22155.282.37
del(8)(q23.3)114.52115.35118.33118.612.98
59 (5,7)del(2)((q22.1–q22.2)141.07141.82143.82144.032
  • CGH, comparative genome hybridisation.

  • Breakpoints and size of the deletions in 12 patients with phenotypic abnormalities, in 1 normal woman with repeated spontaneous abortions and in 3 prenatal cases without echographic anomalies.

  • Map positions refer to the Genome Assembly May 2004 (build 35).