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Table 2 Cytogenetic and molecular findings in patients with ring chromosomes.

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-

 
  1. Subtel MLPA: MLPA with subtelomeric probes; Pantel FISH: FISH signals on ring chromosomes obtained with pantelomeric probes; (-): absent; (+): present; (" "): for acrocentric chromosomes, probes are located proximally on their long arms.