TABLE 2

Karyotype Results

Study IDAge at Diagnosis, y/moGenderKaryotypeParental KaryotypeCMA
ASD-09-0012/5M46,XY,t(5;16)(p13.2;p13.2)NDNormal
ASD-09-0023/0F46,XX,inv(2)(p11;2q13)MaternalNormal
ASD-09-0032/5M46,XY,t(5;17)(q33;p13)NDNormal
ASD-09-0042/6M46,XY,t(3;6)(q26.2;q16.2)PaternalNormal
ASD-09-00511/2M46,XY,t(3;5)(q26.2;q22)De novoNormal
ASD-09-0061/7M46,XX,t(6;7)(q13;q11.2)De novoNormal
ASD-09-0072/11M46,XY,t(6;9)(q16.2;q13)De novoNormal
ASD-09-0085/0MDuplication (13)(q14.1q21.3)NDND
ASD-09-0094/0F47,XX,+mar.ish der(13) or der(21) (D13Z1/D21Z1+) [4]/46,XX [17]NDNormal
ASD-09-0103M46,XY,del (6)(q16.1q21)ND16.4 Mb del 6q16.1-q21
ASD-09-0112/6M46,XY,dup(15)(q11q13)ND730 kb dup 16q22.1
ASD-09-0123/8M46,XY,del(10)(q26.3).ish del(10) (q telomere)(D10S2490−)De novo4.1 Mb del 10q23
ASD-09-0132/11M47,XY,+idic(15)(q13)ND11.9 Mb dup 15q11q13.3
ASD-09-0142/8F47,XX,+21De novo47,XX,+21
ASD-09-0155/4M47,XY,+21De novo47,XY,+21
ASD-09-01610M46,XY,?ins(6)(?p23?q13?q21)De novo3.3 Mb del 18p11.31-p11.23; 313 kb del 6q16.3
ASD-09-0173M46,XY,inv(9)(p11q13)UnknownNormal
ASD-09-0183/4M46,XY,inv(9)(p11q13)UnknownNormal
ASD-09-0192/10M47,XXYDe novoX Chromosome duplication
  • M indicates male; t, translocation (involved chromosomes in parentheses); F, female; inv, inversion of chromosome region; ND, not done; de novo, not observed in blood sample from either parent; mar, marker chromosome; ish, in situ hybridization; del, deletion of chromosomal material; dup, duplication of chromosomal material; idic, isodicentric chromosome; ins, insertion of chromosome material.