Figure 1

MLPA results of three custom probes in the MRC-Holland P200 kit. GeneMarker electrophoretograms are shown on the left, normalized MLPA data on the right. The 184 bp peak represents the D-fragment which is used to highlight incomplete denaturation and is not shown in the analysed data on the right, the 241 bp fragment is a Y chromosome specific fragment for the identification of male samples. a) normal female control sample b) female sample with decreased copy number for the 120 bp probe c) male sample with increased copy number for the 130 bp probe d) female sample with decreased copy number for the 140 bp probe e) poor quality male sample with several outlying probes.