Case Report

Towards New Approaches to Evaluate Dynamic Mosaicism in Ring Chromosome 13 Syndrome

Table 2

Absolute and relative frequencies of clonal and nonclonal cytogenetic findings and distribution in probands (500 metaphases/individual).

Cell lineageKaryotypePatient 1Patient 2Patient 3

Normal46,X_10 (2.0%)
Monocentric ring46,X_,r(13)421 (84.2%)429 (85.8%)421 (84.2%)
Monosomy 1345,X_,‒1359 (11.8%)40 (8.0%)46 (9.2%)
Dicentric ring46,X_,dic r(13)3 (0.6%)21 (4.2%)5 (1.0%)
Monosomy 13 + marker46,X_,‒13,+mar3 (0.6%)3 (0.6%)6 (1.2%)
Deletion 13?46,X_,?del(13)(q31)1 (0.2%)
Isochromosome 13q46,X_,i(13)(q10)1 (0.2%)
Derivative1346,X_,der(13)4 (0.8%)
Monocentric ring × 247,X_,r(13) × 24 (0.8%) 1 (0.2%)4 (0.8%)
Dicentric ring × 247,X_,dic r(13) × 22 (0.4%)1 (0.2%)1 (0.2%)
Monocentric ring + dicentric ring47,X_,r(13),+dic r(13)1 (0.2%)2 (0.4%)1 (0.2%)
Monocentric ring + derivative 1347,X_,r(13),+der(13)1 (0.2%)
Monocentric ring + marker47,X_,r(13),+mar1 (0.2%)1 (0.2%)1 (0.2%)
Dicentric ring + marker 1 + marker 249,X_,dic r(13),+mar1 × 2,+mar21 (0.2%)
Pulverization46,X_,pvz(13)3 (0.6%)
Monocentric ring + pulverization47,X_,r(13),+pvz(13)2 (0.4%)
N=500500500