Persistent Mosaicism for 12p Duplication/Triplication Chromosome Structural Abnormality in Peripheral Blood
(a) SNP array results for chromosome 12 showing Log R ratios in the top panel and B allele frequency in the bottom panel. The long arm of chromosome 12 shows no copy number of genotyping abnormalities. The short arm shows two regions of copy number change, with more copies of the terminal region of 12p and the proximal 12p region. (b) SNP array results for 12p only with the Log R ratio in the upper panel and the B allele frequency in the bottom panel. Regions of mosaicism for four copies (terminal) and three copies (proximal) are indicated by brackets. The additional genotypes in the region of mosaicism for three copies are shown by the bracket in the lower panel. This genotyping pattern indicates that the extra copy of 12p in this region contains an additional maternal haplotype. The presence of three haplotypes suggests an origin of the abnormal 12p in meiosis.
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