From: Mechanisms of ring chromosome formation, ring instability and clinical consequences
Patient | Karyotype | Genomic imbalance | Subtel MLPA | Pantel FISH |
---|---|---|---|---|
I | 46,XY,r(3)(p26.1q29).arr 3p26.3p26.1(307,820-6,045,520) ×1 | del 3p: 5.7 Mb | 3p- 3q+ | - |
II | 46,XX,r(4)(p16.3q35.2).arr 4p16.3(449,000-1,827,772)×1 | del 4p: 1.3 Mb | 4p- 4q+ | - |
III | 46,XY,r(10)(p15.3q26.2).arr 10q26.2q26.3(127,589,040-135,056,940)×1 | del 10q: 7.4 Mb | 10p+ 10q- | + |
IV | 46,XX,r(10)(p15.3q26.13).arr 10p15.3(158,900-979,500)× 1, 10q26.13q26.3 (126,660,267-135,374,720)× 1 | del 10p: 820 Kb del 10q: 8.6 Mb | 10p- 10q- |  |
V | 46,XY,r(13)(p13q33.1).arr 13q33.1(101,543,509-103, 001,462)×3,13q33.1q34(103,003,268-114,142,980)×1 | dup 13q: 1.5 Mb del 13q: 11.1 Mb | "13p"+ 13q- |  |
VI | 46,XY,r(13)(p13q34).arr 13q21.33q34(70,141,036-113, 656,958)×3,13q34(113,759,040-114,123,122)×1 | dup 13q:43.5Mb del 13q: 364 Kb | "13p"+ 13q- |  |
VII | 46,XY,r(14) (p13q32.33).arr (14)×2 | no deletion | "14p"+ 14q+ | - |
VIII | 46,XX,r(15)(p13q26.2).arr 15q26.2q26.3(94,810,000-100,338,900)×1 | del 15q: 5.5 Mb | "15p"+ 15q- |  |
IX | 46,XY,r(18)(p11.32q22.2).arr 18p11.32p(20-1,377,020)× 1,18q22.2q23(65,015,880-75,849,120)×1 | del 18p: 1.3 Mb del 18q: 11.1 Mb | 18p- 18q- |  |
X | 46,XX,r(18)(p11.32q21.33).arr 18q21.33q23(57,446,374-76,117,140)×1 | del 18q: 18.6 Mb | 18p+ 18q- | + |
XI | 46,XX,r(18)(p11.21q23).arr 18p11.32p11.21(178,680-15, 545,050)×1,18q23(74,427,840-76,027,800)×1 | del 18p: 15.3 Mb del 18q: 1.7 Mb | 18p- 18q- |  |
XII | 46,XX,r(22)(p13q13.33).arr (22)×2 | no deletion | "22p"+ 22q+ | + |
XIII | 46,XY,r(22)(p13q13.2).arr 22q13.2q13.33(42,437,109-49,562,479)×1 | del 22q: 7.1 Mb | "22p"+ 22q- |  |
XIV | 46,XX,r(22)(p13q13.2).arr 22q11.21(17,257,787-18,710, 895)×1,22q13.2q13.33(41,744,274-49,562,479)×1 | del 22q: 1.4 Mb del 22q: 7.8 Mb | "22p"+ 22q- |  |