TABLE 4

Abnormal Chromosomal Microarray Results

Study IDChromosome LocationDeletion/DuplicationSize, kbChromosome CoordinatesParent of OriginDiagnosisGenderKaryotypeFragile X
ASD-09-0241p36.13Duplication16386762978–17148920NDAutistic disorderMNormalNormal
ASD-09-0251q21.1Deletion400147290000–147700000De novoPDD-NOSMNormalNormal
ASD-09-0261q21.1Deletion298144154012–144451954PaternalAutistic disorderMNormalNormal
ASD-09-0271q43q44Duplication3000239338812–242339608MaternalPDD-NOSFNormalNormal
ASD-09-0282p16.3Deletion10951236317–51344921De novoAutistic disorderMNormalNormal
ASD-09-0292p16.3Deletion13950714297–50853329NDPDD-NOSMNormalNormal
ASD-09-0302p16.3Deletion12251090504–51212385PaternalAutistic disorderMNormalNormal
ASD-09-0312p21Deletion11247460399–47572748NDAutistic disorderFNDND
ASD-09-0322q13Deletion1700111108666–112819065NDAutistic disorderMNDND
ASD-09-0332q13Deletion298110050724–110348639NDPDD-NOSMNormalNormal
ASD-09-0342q33.1Deletion542198603505–199146109De novoAutistic disorderMNormalNormal
ASD-09-0353p22.1Deletion431743443229–47760421De novoAutistic disorderFNormalNormal
ASD-09-0363q23Deletion352143605199–143957178NDAutistic disorderFNormalNormal
ASD-09-0373q29Duplication453198370256–198823726NDAutistic disorderMNDNormal
ASD-09-0384q23Deletion1348100611813–101959551De novoAutistic disorderMNormalNormal
ASD-09-0394q35.2Deletion1120185535833–186654005NDAutistic disorderMNormalNormal
ASD-09-0406p21.32Duplication55031802268–32352051De novoAutistic disorderMNormalNormal
ASD-09-0416q16.1q21Deletion1641794102643–110520288De novoAutistic disorderM46,XY,del (6) (q16.1q21)Normal
ASD-09-0426q16.3Deletion312101812515–102124648De novoAutistic disorderM46,XY,?ins(6) (?p23?q13?q21)ND
ASD-09-0437q11.22Deletion4369475350–69519211NDPDD-NOSMNormalNormal
ASD-09-0447q11.23Duplication181771 949 830–73 767 523De novoAutistic disorderFNormalND
ASD-09-0458pqMosaic duplicationEntire chr 8Entire chr 8De novoPDD-NOSMAbnormalNormal
ASD-09-0468q23.3Deletion229114185479–114414476NDPDD-NOSMNormalND
ASD-09-0478q24.22q24.3Deletion5000136429381–141456935MaternalAutistic disorderFNormalNormal
ASD-09-0489q34.2Duplication285136013220–136298049De novoPDD-NOSMNormalNormal
ASD-09-04910q11.21q11.23Duplication595045520815–41468963MaternalPDD-NOSMNormalNormal
ASD-09-05010q26.3Deletion4100131300000–135400000De novoPDD-NOSM46,XY,del(10)(q26.3). ish del(10)(q telomere) (D10S2490-)Normal
ASD-09-05112p11.22Deletion21128364520–28575366De novoPDD-NOSFNormalNormal
ASD-09-05212p13.33Deletion311821094–1852794NDPDD-NOSFNDND
ASD-09-05312q14.2Duplication99361814661–62807656PaternalAutistic disorderMNormalNormal
ASD-09-05413q12.11Deletion30419698883–20002569NDAutistic disorderMNormalNormal
ASD-09-05513q12.11Deletion31119691189–19860032NDAutistic disorderFNormalNormal
ASD-09-05615q11.1Duplication1187018362555–30232544NDAutistic disorderM47,XY +idic(15)(q13) unknown parentalNormal
ASD-09-05715q11.2Deletion22220412298–20634262PaternalAutistic disorderMNormalNormal
ASD-09-05815q11.2Duplication27720428073–20704897De novoPDD-NOSMNormalNormal
ASD-09-05915q11.2q13.1Duplication490021219452–26214052MaternalAutistic disorderMNDNormal
ASD-09-06015q13.2q13.3Deletion168728719136–30405675MaternalPDD-NOSMNormalNormal
ASD-09-06115q13.2q13.3Duplication198228719136–30701432De novoAutistic disorderMNormalNormal
ASD-09-06215q13.2q13.3Duplication198228719136–30701432De novoAutistic disorderMNormalNormal
ASD-09-06315q13.2q13.3Deletion150028719136–30298155NDPDD-NOSFNormalNormal
ASD-09-06415q14Deletion15231861894–32014683NDAutistic disorderMNDNormal
ASD-09-06516p11.2Deletion22028732295–28952277De novoAutistic disorderMNormalNormal
ASD-09-06616p11.2Deletion54629560500–30106852De novoAutistic disorderMNormalNormal
ASD-09-06716p11.2Deletion54629560550–30106852De novoPDD-NOSFNormalNormal
ASD-09-06816p11.2Deletion54629560500–30106101De novoPDD-NOSMNormalNormal
ASD-09-06916p11.2Deletion54629560500–30106101De novoPDD-NOSMNormalNormal
ASD-09-07016p11.2Duplication67929560500–30240082MaternalPDD-NOSMNDND
ASD-09-07116p13.2Duplication3686694662–7062616NDPDD-NOSMNormalNormal
ASD-09-07216q23.3Deletion16681412569–81578850MaternalAutistic disorderMNormalNormal
ASD-09-0737q12Deletion140031889297–33323031De novoPDD-NOSMNormalNormal
ASD-09-04218p11.31p11.23Deletion33003905938–7234642De novoAutistic disorderM46,XY,?ins(6) (?p23?q13?q21)ND
ASD-09-073119p13.13Duplication16813378448–13546189De novoPDD-NOSMNormalNormal
ASD-09-07521qDuplicationEntire chr 21Entire chr 21De novoAutistic disorderF47,XX, +21
ASD-09-07621qDuplicationEntire chr 21Entire chr 21De novoAutistic disorderM47,XY, +21Normal
ASD-09-077Xp22.31Deletion16286463313–8091810MaternalAutistic disorderMNormalNormal
ASD-09-078Xp22.31Duplication16246492092–8116174NDPDD-NOSFNormalABNORMAL_FEMALE paternal 69 premutation, maternal 32
ASD-09-079Xq12Deletion2465729442–65753605MaternalAutistic disorderMNormalNormal
ASD-09-080Xq27.1Deletion706138429944–139136376NDPDD-NOSMNormalNormal
ASD-09-081XXYDuplicationEntire chr XEntire chr XDe novoPDD-NOSM47,XXYNormal
ASD-09-082XYYDuplicationEntire chr YEntire chr YDe novoAutistic disorderMNDNormal
  • Chr indicates chromosome (coordinates reflect human genome build 18 from March 2006); ND, not done; M, male; de novo, not observed in blood sample from either parent; F, female; del, deletion of chromosomal material; ins, insertion of chromosome material; ish, in situ hybridization; idic, isodicentric chromosome.