Table 3.
Genomic Localization of the Disrupted Chromosome Bands in Comparison to Karyotypically Reported Bands
| Subject | Next-Gen Cytogenetic Nomenclature40(Short System) | G-Band | Next-Gen Band | Revised Band Range: Nucleotides (Distance) | Genesa | Phenotype-Associated Locib |
|---|---|---|---|---|---|---|
| DGAP239 | 46,XY,t(6;8)(q13;q13)dn.arr(1-22)x2,(XY)x1. seq[GRCh37/hg19] t(6;8)(q13;q12.2)dn |
6q13 | 6q13 | 6q13: 70,000,001–75,900,000 (5.9 Mb) | 63 | 16 |
| 8q13 | 8q12.2 | 8q12q21: 55,500,001–93,300,000 (37.8 Mb) | 334 | 41 | ||
| DGAP247 | 46,XY,inv(8)(q13q24.1)dn.arr(1-22)x2,(XY)x1. seq[GRCh37/hg19] inv(8)(q11.21q24.23)dn |
8q13 | 8q11.21 | 8q11q21: 45,600,001–93,300,000 (47.7 Mb) | 406 | 47 |
| 8q24.1 | 8q24.23 | 8q24: 117,700,001–146,364,022 (28.7 Mb) | 306 | 47 | ||
| DGAP248 | 46,XY,t(2;13)(p13;q14)dn.arr(1-22)x2,(XY)x1. seq[GRCh37/hg19] t(2;13)(p12;q13.2)dn |
2p13 | 2p12 | 2p14p12: 64,100,001–83,300,000 (19.2 Mb) | 225 | 32 |
| 13q14 | 13q13.2 | 13q13q21: 32,200,001–73,300,000 (41.1 Mb) | 375 | 47 | ||
| DGAP258 | 46,XY,inv(6)(p23q13)dn.arr(1-22)x2,(XY)x1. seq[GRCh37/hg19] inv(6)(p25.3q16.1)dnc |
6p23 | 6p25.3 | 6p25p22: 1–30,400,000 (30.4 Mb) | 679 | 74 |
| 6q13 | 6q16.1 | 6q11q16: 61,000,001–105,500,000 (44.5 Mb) | 293 | 44 | ||
| DGAP259 | 46,XX,t(3;18;5;7)(p25;p11.2;q13.3;q32),t(9;18)(p22;q21)dn.arr(1-22,X)x2. seq[GRCh37/hg19](3,5,7,9,18)cx,der(3)t(3;7)(p24.3;q36.3)dn,der(5)t(5;7)(q14.3;q35)t(3;7)(p24.3;q36.3) t(3;18)(p26.3;p11.31)dn,der(7)t(5;7)dn, der(9)t(9;18)(p23;q21.3)dn, der(18)t(3;18)inv(18)(p11.31q21.3)t(9;18)dn |
3p25 | 3p26.3 3p24.3 |
3p26p24:1–30,900,000 (30.9 Mb) | 277 | 49 |
| 5q13.3 | 5q14.3 | 5q12q14: 58,900,001–92,300,000 (33.4 Mb) | 323 | 358 | ||
| 7q32 | 7q35 7q36.3 |
7q31q36: 107,400,001–159,138,663 (51.8 Mb) | 693 | 80 | ||
| 9p22 | 9p23 | 9p23p21: 9,000,001–33,200,000 (24.2 Mb) | 181 | 33 | ||
| 18p11.2 | 18p11.31 | 18p11: 1–17,200,000 (17.2 Mb) | 192 | 29 | ||
| 18q21 | 18q21.3 | 18q21: 43,500,001–61,600,000 (18.1 Mb) | 172 | 33 | ||
| DGAP268 | 46,XY,inv(10)(p13q24)dn.arr(1-22)x2,(XY)x1. seq[GRCh37/hg19]inv(10)(p12.2p12.31)(p12.2q23.32)dn |
10p13 | 10p12.31 10p12.2 |
10p14p12: 6,600,001–29,600,000 (23 Mb) | 233 | 26 |
| 10q24 | 10q23.32 | 10q23q25: 82,000,001–119,100,000 (37.1 Mb) | 467 | 84 | ||
| DGAP285 | 46,Y,inv(X)(p11.2q28).arr(1-22)x2,(XY)x1. seq[GRCh37/hg19] inv(X)(p11.2q28) |
Xp11.2 | Xp11.21 | Xp11.2: 46,400,001–58,100,000 (11.7 Mb) | 274 | 65 |
| Xq28 | Xq28 | Xq28: 147,100,001–155,270,560 (8.2 Mb) | 192 | 63 | ||
| DGAP288 | 46,XX,t(6;17)(q13;q21)dn.arr(1-22,X)x2. seq[GRCh37/hg19] t(6;17)(q21;q24.3)dn |
6q13 | 6q21 | 6q11q21: 61,000,001–114,600,000 (53.6 Mb) | 404 | 57 |
| 17q21 | 17q24.3 | 17q11q24: 24,000,001–70,900,000 (46.9 Mb) | 1,032 | 138 | ||
| DGAP290 | 46,XY,t(2;7)(q33;q32)dn.arr(1-22)x2,(XY)x1. seq[GRCh37/hg19](2,7)cx, der(2)t(2;7)(q32.3;q33) inv(7)(q33q33)dn,der(7)t(2;7)dn |
2q33 | 2q32.3 | 2q32q34: 183,000,001–215,300,000 (32.3 Mb) | 313 | 51 |
| 7q32 | 7q33 | 7q31q33: 107,400,001–138,200,000 (30.8 Mb) | 291 | 49 | ||
| DGAP295 | 46,XY,t(2;11)(p13.1;p15.5)dn.arr(1-22)x2,(XY)x1. seq[GRCh37/hg19](2,11)cx,der(2)inv(11)(p15.5)inv(11)(p15.5) t(2;11)(p13.3;p15.5)dn,der(11)t(2;11)dn |
2p13.1 | 2p13.3 | 2p13: 68,600,001–75,000,000 (6.4 Mb) | 133 | 32 |
| 11p15.5 | 11p15.5 | 11p15.5: 1–2,800,000 (2.8 Mb) | 114 | 31 |
a
Number of genes for the presented nucleotide range (NCBI Map Viewer, annotation release 105 [GrCh37.p13]).
b
OMIM Phenotypic Series-specific entries for the presented nucleotide range (June 9, 2015).
c
Cryptic paternal inversion is not included.