Table 2.
AGRE confirmed abnormal aCGH results
| Family ID | Individual ID | BloodID | Sex | Family Structure | Ethnicity | Race | 19K aCGH result | Size | # genes | transmission | Confirmed |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AU0385 | AU038503 | HI0309 | F | Multiplex | Unknown | Unknown | del(2)(p25.3) | 1.2 Mb | 5 | inherited | F |
| AU0230 | AU023012 | HI1001 | M | Multiplex | Unknown | Unknown | dup(2)(p24.2) | 970 kb | 4 | inherited | F,S |
| AU0039 | AU0039301* | HI1481 | M | Multiplex | NOT Hispanic | White | dup(2)(p22.3) | 700 kb | 3 | inherited | F,S |
| AU0640 | AU064004 | HI2215 | F | Multiplex | NOT Hispanic | White | dup(2)(p21) | 530 kb | 3 | inherited | F,S |
| AU0355 | AU035505 | HI0234 | F | Simplex | NOT Hispanic | White | dup(2)(p15) | 770 kb | 4 | inherited | F,S |
| AU0483 | AU048304* | HI0911 | F | Multiplex | Hispanic | White | del(2)(q32.3) | 450 kb | 1 | inherited | F,S |
| AU0660 | AU066005* | HI1928 | F | Multiplex | NOT Hispanic | White | del(3(p26.3) | 700 kb | 1 | inherited | F,S |
| AU0053 | AU005303* | HI1102 | M | Multiplex | NOT Hispanic | White | dup(3)(p26.2) | 285 kb | 2 | inherited | F,S |
| AU0034 | AU003404* | HI1289 | F | Multiplex | NOT Hispanic | White | del(3)(p14.1) | 1.3 Mb | 4 | inherited | F,S |
| AU0215 | AU021503* | HI0020 | M | Multiplex | Hispanic | White | dup(3)(q12.1) | 300 kb | 4 | inherited | F,S,Q |
| AU0293 | AU029303 | HI0525 | M | Multiplex | NOT Hispanic | White | dup(5)(q12.1) | 575 kb | 3 | inherited | F,S,Q |
| AU0994 | AU0994301 | HI2775 | F | Multiplex | NOT Hispanic | White | del(5)(q12.1) | 810 kb | 1 | inherited | F,S,Q |
| AU0385 | AU038503 | HI0309 | F | Multiplex | Unknown | Unknown | dup(7)(p22.3) | 1.1 Mb | 12 | inherited | F |
| AU0386 | AU038603 | HI0289 | M | Simplex | Unknown | Unknown | dup(7)(p21.1) | 600 kb | 2 | inherited | F,S |
| AU0672 | AU067209 | HI1686 | F | Multiplex | Unknown | Unknown | del(7)(q21.11) | 2.9 Mb | 3 | inherited | F,S,Q |
| AU0340 | AU034004 | HI0125 | F | Multiplex | NOT Hispanic | White | dup(7)(q21.13) | 615 kb | 2 | inherited | F,S |
| AU0029 | AU002905 | HI0128 | F | Multiplex | NOT Hispanic | White | del(7)(q31.32) | 900 kb | 4 | inherited | F,S |
| AU0785 | AU078503 | HI1954 | F | Multiplex | NOT Hispanic | White | dup(8)(q11.23) | 310 kb | 3 | inherited | F,S |
| AU0305 | AU030504* | HI0182 | M | Multiplex | NOT Hispanic | White | del(10)(p13) | 318 kb | 6 | inherited | F,S |
| AU0845 | AU084505 | HI2168 | F | Multiplex | NOT Hispanic | White | dup(10)(q11.22-q11.23) | 5.5 Mb | 28 | inherited | F,S |
| AU0562 | AU056204 | HI0799 | F | Multiplex | NOT Hispanic | White | dup(11)(p11.12) | 600 kb | 2 | inherited | F,S |
| AU0487 | AU048703* | HI1000 | F | Multiplex | NOT Hispanic | White | dup(12)(p11.1) | 1.2 Mb | 3 | inherited | F,S |
| AU0383 | AU038304 | HI0299 | M | Multiplex | NOT Hispanic | White | dup(13)(q14.2) | 393 kb | 1 | inherited | F,S |
| AU0173 | AU017305 | HI0933 | M | Multiplex | NOT Hispanic | White | dup(14)(q23.1) | 189 kb | 3 | inherited | F,S,Q |
| AU0065 | AU006504* | HI0473 | M | Multiplex | NOT Hispanic | White | dup(15)(q11-q13) | 6.1 Mb | 18 | inherited | F,S,Q |
| AU0106 | AU010603* | HI0121 | M | Multiplex | NOT Hispanic | White | dup(15)(q11-q13) | 4.7 Mb | 18 | de novo | F,S |
| AU0233 | AU023304 | HI0304 | M | Multiplex | NOT Hispanic | White | dup(15)(q11-q13) | 5.9 Mb | 18 | de novo | F,S |
| AU0132 | AU013203 | HI0385 | M | Simplex | Unknown | Unknown | dup(15)(q12.1) | 195 kb | 3 | de novo | F,S |
| AU0520 | AU052003* | HI2139 | M | Multiplex | NOT Hispanic | White | dup(15)(q13.1) | 289 kb | 3 | inherited | F,S |
| AU0520 | AU052003* | HI2139 | M | Multiplex | NOT Hispanic | White | dup(15)(q13.3) | 372 kb | 2 | inherited | F,S |
| AU0467 | AU046703 | HI1030 | M | Multiplex | Unknown | Unknown | dup(15)(q21.3) | 1.2 Mb | 12 | inherited | F,S |
| AU0561 | AU056103* | HI0972 | M | Multiplex | Unknown | Unknown | del(15)(q25.3) | 600 kb | 9 | inherited | F,S |
| AU0154 | AU0154303* | HI2467 | F | Multiplex | NOT Hispanic | Pacific Islander | del(16)(p11.2) | 980 kb | 24 | de novo | F,S,Q |
| AU0298 | AU029803 | HI0624 | F | Multiplex | NOT Hispanic | White | del(16)(p11.2) | 590 kb | 24 | de novo | F,S |
| AU0419 | AU041905 | HI0646 | F | Multiplex | NOT Hispanic | White | del(16)(p11.2) | 700 kb | 24 | de novo | F,S |
| AU0938 | AU0938301 | HI2997 | M | Multiplex | NOT Hispanic | White | del(16)(p11.2) | 980 kb | 24 | de novo | F,S |
| AU0029 | AU002905 | HI0128 | F | Multiplex | NOT Hispanic | White | dup(16)(q22.1) | 890 kb | 15 | de novo | F,S |
| AU0796 | AU079605 | HI1937 | M | Multiplex | Unknown | Unknown | dup(16)(q23.3) | 527 kb | 2 | inherited | F,S |
| AU0796 | AU079605 | HI1937 | M | Multiplex | Unknown | Unknown | dup(16)(q24.1) | 510 kb | 6 | inherited | F,S |
| AU0779 | AU077903 | HI2043 | F | Multiplex | NOT Hispanic | White | dup(17)(p13.1) | 400 kb | 4 | inherited | F,S |
| AU0149 | AU014905* | HI0563 | M | Multiplex | NOT Hispanic | White | del(17)(p12) | 1.1 Mb | 5 | inherited | F,S |
| AU0611 | AU061103 | HI1252 | M | Multiplex | NOT Hispanic | White | dup(18)(q22.3) | 360 kb | 1 | inherited | F,S,Q |
| AU0276 | AU027604 | HI0937 | F | Multiplex | Unknown | Unknown | dup(19)(q12) | 900 kb | 5 | inherited | F,S |
| AU1368 | AU1368302* | HI3629 | F | Multiplex | Unknown | Unknown | del(20)(p12.3) | 480 kb | 1 | inherited | F,S |
| AU0187 | AU018704 | HI0340 | F | Multiplex | Unknown | Unknown | dup(20)(q12) | 264 kb | 1 | inherited | F,S,Q |
| AU0477 | AU047704 | HI1876 | F | Multiplex | Hispanic | More Than One Race | dup(21)(q22.12) | 210 kb | 5 | inherited | F,S |
| AU0049 | AU004903 | HI0322 | F | Multiplex | Unknown | Unknown | dup(22)(q11.21) | 2.2 Mb | 40 | de novo | F,S |
| AU0018 | AU001804 | HI1183 | M | Multiplex | NOT Hispanic | White | dup(22)(q11.21) | 2.2 Mb | 40 | inherited | F,S |
| AU0034 | AU003404* | HI1289 | F | Multiplex | NOT Hispanic | White | dup(22)(q13.33) | 570 kb | 2 | inherited | F,S |
| AU0930 | AU0930202 | HI2506 | F | Multiplex | NOT Hispanic | White | dup(X)(p22.32) | 360 kb | 0 | inherited | F,S |
| AU0709 | AU070908 | HI1920 | F | Multiplex | Unknown | Unknown | dup(X)(p22.22) | 510 kb | 4 | inherited | F,S |
*
= concordant with affected sibs and discordant with unaffected sibs.
del = deletion; dup = duplication; F = Fluorescence in situ hybridization; S = short tandem repeat polymorphisms/microsatellites; Q = quantitative PCR