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Figure 2: Chromosomal abnormalities detected in OAVS patients. Candidate genetic loci for OAVS have also been suggested by the identification of chromosomal anomalies in patients with phenotypic characteristics of this spectrum [35-55] (in red); by the identification of the breakpoints in apparently balanced chromosomal rearrangements [56-62] (in green); by the presence of chromosomal mosaicism in individuals with OAVS features [63-65] (in orange); by genome wide search for linkage in families (in purple – full [66] and, less convincingly due to a non-significant LOD score, in purple – dashed [67]); and by high density oligonucleotide array- CGH [10] (blue). |