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Details of the 10p14 deletion in case 3. A. Summary of gene quantification and chromosome breakpoint refinement: several genes were tested by MLPA (P023 kit) and DP/LC. Combination of the results indicates a heterozygous deletion of about 230 Kb including the ITIH5 gene. NA: Not Applicable. B. Pedigree of the case 3's family. The proband is indicated with an arrow. Question marks indicate that the phenotype of putative genetic carriers is unknown.
