chromosomal translocation t(3;18)(q13.13;q12.1)
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Introduction
- chromosomal translocation t(3;18)(q13.13;q12.1) involving CD96 is associated with C syndrome
- CD96 gene was located at the 3q13.13 breakpoint
- precise structural analysis around the breakpoint showed that the gene was disrupted by the translocation in exon 5, probably leading to premature termination or loss of expression of CD96 protein
- no gene was detected at the chromosome 18 breakpoint