|
| Chr | Genomic rearrangementsa | Phenotype(s) | DECIPHER |
| ID |
|
Chr1
| arr 1q12q21.1(141,959,285-147,024,032)x3-inherited (overlap the TAR syndrome and 1q21.1 recurrent microdeletion/microduplication locus) | high birth weight (>90th centile)
and 5 other phenotypes | 265628 |
| arr 1q31.1q31.2(187,292,321-191,478,235)x3 dn | obesity, general abnormalities, and 7 other phenotypes | 3463 |
|
Chr2
| arr 2p25.3(53,452-3,194,600)x1 dn | obesity, generalized abnormalities, and 7 other phenotypes | 258576 |
| arr 2p24.1p23.3(23,826,350-24,923,855)x1-inherited | generalized obesity and 4 other phenotypes | 255430 |
| arr 2q31.1(170,471,086-175,231,429)x1 dn | generalized obesity and 19 other phenotypes | 250211 |
|
|
Chr3 | arr 3p26.3(768,376-2,367,266)x1 dn | truncal obesity and 5 other phenotypes | 249965 |
| arr 3q13.2-q13.31(113,681,019-116,466,222)x1 dn | truncal obesity and 3 other phenotypes | 4673
|
| arr 3q13.31q21.2(116,885,009-125,066,880)x1 dn | truncal obesity and 5 other phenotypes | 251079 |
|
| Chr4 | arr 4q21.21q21.23(82,301,439-85,425,757)x1 dn | high birth weight (>90th centile) and 17 other phenotypes | 4539 |
|
|
Chr5 | arr 5p15.2p14.1(12,337,356-27,024,241)x1 dn | obesity, general abnormalities, and 3 other phenotypes | 250008 |
| arr 5p13.2p13.1(35,624,846-39,364,263)x3 dn | generalized obesity and 26 other phenotypes
| 255925 |
| arr 5q14.3q15(90,230,044-94,799,167)x1 dn | truncal obesity and 8 other phenotypes | 248692 |
| arr 5q23.1q23.2(116,801,735-124,680,789)x1 dn | truncal obesity and 3 other
phenotypes | 261304 |
|
| Chr6 | arr 6q14.1q15(79,381,580-88,100,133)x1 dn | obesity, general abnormalities, and 18 other phenotypes | 1878 |
|
|
Chr7 | arr 7q11.23(72,364,514-73,777,326)x3 dn (overlap WBS locus; GTF2I) | generalized obesity and 17 other phenotypes | 255467 |
| arr 7q22.1q22.2(102,145,556-105,274,891)x1 dn | obesity, general abnormalities,
and 2 other phenotypes | 625 |
| arr 7q22.1q22.3(103,887,195-106,790,044)x1 dn | high birth weight (>90th centile) and 6 other phenotypes | 4470 |
|
|
Chr8 | arr 8p23.1(6,986,631-12,285,366)x3 dn
(overlap 8p23.1 deletion/duplication syndrome; SOX7, CLDN23) | generalized obesity and 9 other phenotypes | 255954 |
| arr 8q12.1(58,181,408-59,144,674)x1 dn | generalized obesity and 4 other phenotypes | 260283 |
|
|
Chr9 | arr 9q21.11(70,791,222-71,030,800)x3-inherited | generalized obesity and 2 other phenotypes | 251354 |
| arr 9q22.32q22.33(96,375,866-101,058,940)x1 dn | high birth weight (>90th centile)
and 11other phenotypes | 1002 |
| arr 9q33.3q34.11(128,990,000-130,220,000)x1 dn | generalized obesity and 4 other phenotypes | 259586 |
|
|
Chr12 | arr 12q13.12q13.13(51,293,317-54,455,978)x3 dn | truncal obesity and 12 other phenotypes | 248785 |
| arr 12q21.1q25(68,841,926-71,439,458)x1 dn | obesity, general abnormalities,
and 10 other phenotypes | 258580/258581 |
| arr 12q21.32q23.1(87,208,712-99,988,990)x3 dn | obesity, general abnormalities,
and 12 other phenotypes | 258582 |
|
|
Chr13 | arr 13q13.3q14.11(38,442,447-41,548,237)x1 dn | high birth weight (>90th centile) and 23 other phenotypes | 1304 |
| arr 13q32.3q32.3(100,431,907-100,838,153)x1 dn | truncal obesity and 6 other phenotypes | 2130 |
|
|
Chr14 | arr 14q11.2(20,314,536-21,320,719)x3 dn | obesity, general abnormalities, and 15 other phenotypes | 258583 |
| arr 14q23.1(56,291,177-57,664,121)x1 dn | generalized obesity and 8 other phenotypes | 255207 |
|
|
Chr15 | arr 15q14q15.3(39,072,646-43,613,803)x1 dn | truncal obesity and 5 other phenotypes | 1392 |
| arr 15q26.2q26.3(95,128,043-100,168,718)x1 dn (overlap 15q26 overgrowth syndrome) | truncal obesity and 3 other phenotypes | 2502 |
|
|
Chr16 | arr 16p13.11(14,993,254-16,189,808)x3 dn (overlap 16p13.1 1 deletion and duplication syndrome; MYH11) | generalized obesity and 10 other phenotypes | 2370 |
| arr 16q12.1q21(49,499,378-57,740,601)x3 dn | generalized obesity and 9 other phenotypes | 248877 |
| arr 16q24.2q24.3(85,897,636-87,862,929)x1 dn | generalized obesity and 8 other phenotypes | 255327 |
|
| Chr17 | arr 17p13.2(5,537,212-6,197,315)x1-inherited | generalized obesity and 8 other phenotypes | 254050 |
| arr 17p13.1(6,896,836-7,157,572)x3 dn | generalized obesity and 5 other phenotypes | 258588 |
| arr 17p13.1(6,920,991-7,767,844)x3 dn | generalized obesity and 10 other phenotypes | 262186 |
| arr 17p13.1(6,972,362-7,490,406)x3 dn | generalized obesity and 24 other phenotypes | 256668 |
| arr 17q11.2(26,085,851-27,391,269)x3 dn (overlap NF1 deletion syndrome) | generalized obesity and 4 other phenotypes | 256904 |
| arr 17q21.31(41,288,423-41,528,254)x3 dn (overlap 17q21.31 deletion/duplication; MAPT) | high birth weight (>90th centile) and 7 other phenotypes | 249014 |
|
|
Chr19 | arr 19p13.12(14,243,780-15,353,848)x1 dn | generalized obesity and 15 other phenotypes | 255743 |
| arr 19q13.43(58,605,464-59,010,255)x1 dn | generalized obesity and 7 other phenotypes | 2590 |
|
|
Chr20 | arr 20p13(17,408-1,810,420)x3 dn | truncal obesity and 22 other phenotypes | 250961 |
| arr 20p12.1(14,556,853-14,704,918)x1 dn | obesity, general abnormalities, and 4 other phenotypes | 249098 |
|
Chr22
| arr 22q11.21(20,129,773-21,984,237)x1 dn (overlap DG/VCFS, and 22q11.2 distal deletion syndrome) | truncal obesity and 6 other phenotypes | 248709 |
| arr 22q11.21q11.22(20,247,200-21,293,000)x1 dn (overlap 22q11.2 distal deletion syndrome; BCR, MAPK1) | obesity, general abnormalities, and 4 other phenotypes | 250888 |
|
| ChrX | arr Xp22.13p22.12(18,123,941-19,743,555)x1 dn | obesity, general abnormalities and 6 other phenotypes | 258585 |
| arr Xp11.4p11.3(42,241,552-43,449,256)x1-inherited | generalized obesity and 3 other phenotypes | 258161 |
| arr Xp11.23(48,639,178-48,956,107)x1 dn (overlap Xp11.22p11.23 microduplication) | obesity, general abnormalities,
and 4 other phenotypes | 254343 |
| arr Xq22.11q22.3(101,252,518-105,733,692)x1 dn (overlap Pelizaeus-Merzbacher disease) | high birth weight (>90th centile), and 21 other phenotypes | 257182 |
| arr Xq27.2(140,225,865-140,521,032)x1 dn | generalized obesity and 2 other phenotypes | 250330 |
| arr Xq27.3q28 (144,934,242-148,461,832)x1 dn | obesity, general abnormalities,
and 10 other phenotypes | 250246 |
| arr Xq27.3q28(145,354,647-148,617,309)x1 dn | generalized obesity and 2 other phenotypes | 265618 |
|
