Fifteen samples with different cytogenetics alterations and three normal controls were used (Table 1). All experiments were performed according to the principle expressed in the Declaration of Helsinki. See Supplementary Data, Materials and Methods S1 for a detailed description of DNA extraction, high-throughput SNP genotyping using Sentrix® Human-1 Genotyping and Sentrix® HumanHap300 (Illumina, San Diego, USA) and a description of experimental validation. Table 1.Sample descriptionMolecular cytogeneticsReferenceSample IDChromosomal alterationsChr.MethodNormal marker (tel)Del/Dup marker (tel)Del/Dup marker (cen)Normal marker (cen)1NormalNANANANANANANA2NormalNANANANANANANA3NormalNANANANANANANA4Deletion6pFISHNANA5 957 4256 082 107(39)5Deletion6pFISHNANA6 265 9017 052 829(36)6Deletion6pFISHNANA6 429 5387 672 009(39)7Deletion6pFISHNANA4 157 7426 939 085(38)8Deletion6pFISHNANA9 682 8659 950 880(39)9Deletion6pFISHNANA6 739 5427 304 962(40)10Duplication6pFISHNANA15 111 30920 066 682NA11Translocation6p,7qFISHNANANANA(37)12Translocation6p,9pFISHNANANANA(35)13Translocation6p,9qFISHNANANANA(37)Molecular genetics14DeletionXpSequencingFrom 31 589 077 (31 589 080) to 31 743 409 (31 743 412)NA15Duplication17pMLPA13 445 96914 051 07215 148 19515 548 103NA16Duplication6pMLPA41 255 72443 608 79647 024 37351 272 159NA17Deletion5qPCRHomozygous deletion of exon 7 and 8 of the SMN1 geneNA18Deletion3pMLPA342 74610 051 14610 166 63210 194 541NASummary of samples and chromosomal alteration as characterized with different classic technologies. (All positions are in bp on Build35; May 2004 Assembly.) NA—not applicable.
