Fig. 1

RB1 deletion in the context of mosaic 13q deletion. A Multiplex Ligation-dependent Probe Amplification (MLPA) assay looking for RB1 gene deletions or duplications (SALSA P047-C1) in germline DNA from peripheral blood lymphocytes. The detected values were low but not consistent with a heterozygous deletion. The suspicion was a complete RB1 deletion in mosaicism. B Genomic SNP array (AffymetrixCytoScan 750 array) reports a 13q deletion in mosaicism. It is a deletion of 35.7 Mb from 13q12.13 to 13q21.2 (arr[hg19] 13q12.13q21.2(26,555,387–62,280,955) × 1–2) observed in about 40% of all determinations