Table 3

Copy number changes detected by both CNAG and Aroma.Affymetrix

PatientTypeSize (kb)Aroma coordinatesChromosomal bandDGV*Inheritance
SRS-ue-10Dup291chr6:95408269-956993066q16.1YesDe novo
SRS-ue-9Del655chr10:46557002-4721208210q11.22YesDe novo
SRS-hypo-5Dup22chr11:18905796-1892756211p15.1YesDe novo
SRS-hypo-7Del113chr11:114661286-11477374511q23.2NoDe novo
SRS-ue-10Dup1631chr15:18446422-2007755415q11.2YesDe novo
SRS-ue-1Dup1499chr15:18446422-1994529515q11.2YesDe novo
SRS-ue-6Del2595chr15:97020968-9961626315q26.3YesDe novo
SRS-ue-2Del9chr17:41006823-4101575817q21.31YesDe novo
SRS-ue-8Dup9chr17:41006823-4101575817q21.31YesDe novo
SRS-hypo-2Dup597chr17:41569489-4216628217q21.31-32YesDe novo
SRS-ue-8Dup189chr17:41522318-4171141117q21.31YesDe novo
SRS-ue-4Del1140chr22:20136401-2127682522q11.21-22YesDe novo
SRS-ue-5Dup2686chrX:18654-2704240Xp22.33YesDe novo
SRS-ue-1Del27chr6:29979615-300068766p21.33YesPaternal
SRS-ue-2Dup190chr6:118811259-1190014866q22.31NoPaternal
SRS-hypo-1Del383chr6:161856224-1622391356q26YesMaternal
SRS-ue-8Dup743chr8:76760217-775032868q21.11YesMaternal
SRS-ue-3Dup122chr8:87282004-874043138q21.3YesPaternal
SRS-ue-2Dup695chr10:61909390-6260450210q21.2YesMaternal
SRS-ue-5Del660chr12:91334425-9199418912q22NoMaternal
SRS-ue-3Dup346chr12:130572244-13091825212q24.33YesPaternal
SRS-ue-5Dup219chr14:19272965-1949242314q11.2YesMaternal
SRS-ue-11Dup219chr14:19272965-1949242314q11.2YesMaternal
SRS-hypo-2Dup214chr14:19272965-1948723414q11.2YesPaternal
SRS-ue-3Dup175chr14:19272965-1944778914q11.2YesPaternal
SRS-ue-11Del144chr14:82521875-8266615114q31.1-2YesPaternal
SRS-ue-6Dup33chr17:31463252-3149657517q12YesMaternal
SRS-ue-9Dup33chr17:31463252-3149657517q12YesPaternal
SRS-hypo-6Dup663chr17:41560151-4222335317q21.31-32YesMaternal
SRS-hypo-6Del2chr17:51518046-5152002817q22YesPaternal
SRS-hypo-1Del65chr17:61847708-6191261317q24.2NoPaternal
SRS-ue-6Dup248chr22:20652138-2090041722q11.22YesPaternal
SRS-ue-7Dup396chr22:23980648-2437651322q11.23YesPaternal
  • * The region has been reported to the database of genomic variants (DGV; http://projects.tcag.ca/variation/).

  • Means that there are CNVs within the region, but they are not covering the whole region.

  • CNV, copy number variant; SRS, Silver–Russell syndrome.