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Worksheet 2 reports the number of genetic aberrations identified in each gene across the joint dataset (n = 930 biologically independent samples).
Worksheet 1 reports the number of genetic aberrations identified in each gene this study, separated by type: essential splice site, frameshift, inframe, missense, nonsense, silent, stop-lost, homozygous deletion, rearrangement (n = 112 biologically independent samples).
Aberrations identified by aCGH were compared with those identified by a FISH panel, including locus-specific probes to ATM (11q22.3), the centromeric region of chromosome 12 (12p11.1–q11), D13S319 (13q14.3), LAMP1 (13q34), and TP53 (17p13.1).
Increasing, new treatments for cancer are being developed based on the analysis of genomic aberrations identified in tumor samples from patients.
Aberrations identified for each sample were listed and graphically displayed.
Figure 1 summarises all the chromosomal aberrations identified.
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In the current study, we demonstrate that the detection of a high proliferative activity in combination with chromosomal aberrations identifies a subgroup of young A II patients with a rapid malignant course.
In this case report we present the detailed clinical and cytogenetical analysis of a unique low-mosaic der (5) t(5 12) aberration identified in a CDH patient with multiple congenital anomalies.
In our study, supernumerary centrosomes were the most frequent aberration identified.
This correlates with the findings of Hahn et al (1994), who reported trisomy of CFA 13 as the most common unbalanced aberration identified in their panel of cases studied by conventional cytogenetics (15 of 61 cases, 24.6%).
Chromosome aberrations were identified morphologically according to the principles described in the 'Atlas of chromosome aberration by chemicals' (JEMS-MMS, 1988).
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