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Table 1 Overview of TSM associated with supernumerary marker chromosomes

From: Turner’s syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesis

Chromosome abnormality Cell proportions (%) FISH results
45,X/46,X,+mar/46,XX 20/50/30 45,X.ishXp11.1q11.1(DXZ1×1)[10]/46,X,mar(X). ishXp11.1q11.1(DXZ1×2)[25] /46,XX.ishXp11.1q11.1(DXZ1×2[15];
nuc ishXcen(DXZ1×1)[243]/(DXZ1×2)[757]
45,X/46,X,+mar 38/62 45,X.ishXp11.1q11.1(DXZ1×1)[19]/46,X,mar(X). ishXp11.1q11.1(DXZ1×2)[31];
nuc ishXcen(DXZ1×1)[341]/(DXZ1×2)[659]
45,X/46,X,+ mar 54/46 45,X.ishXp11.1q11.1(DXZ1×1)[27]/46,X,mar(X). ishXp11.1q11.1(DXZ1×2)[23];
nuc ishXcen(DXZ1×1)[483]/(DXZ1×2)[517]
45,X/46,X,+mar 52/48 45,X.ishXp11.1q11.1(DXZ1×1)[26]/46,X,mar(X). ishXp11.1q11.1(DXZ1×2)[24];
nuc ishXcen(DXZ1×1)[448]/ (DXZ1×2)[552]
45,X/47,XX,+mar/46,XX 32/22/46 45,X.ishXp11.1q11.1(pYAM10-40×1)[16]/47,XX,mar(X). ishXp11.1q11.1(DXZ1×3)[11]/46,XX.ishXp11.1q11.1(DXZ1×2)[23];
nuc ishXcen(DXZ1×1)[389]/(DXZ1×3)[311]/(DXZ1×2)[300]
45,X/47,XXX/46,X,+mar* 38/42/20 47,XXX.ishXp11.1q11.1(DXZ1×3)[21]/45,X.ishXp11.1q11.1 (DXZ1×1)[19]/46,X,mar(X). ishXp11.1q11.1(pYAM1040×2)[10];
nuc ishXcen(DXZ1×3)[387]/(DXZ1×1)[303]/ (DXZ1×4)[110]/(DXZ1×2)[190]
45,X/46,X,+mar 72/28 45,X.ishXp11.1q11.1(DXZ1×1)[36]/46,X,mar(X).ish(DXZ1×2)[14];
nuc ishXcen(DXZ1×1)[387]/(DXZ1×2)[613]
45,X/46,X,+mar 52/48 46,X,mar(X).ishXp11.1q11.1(DXZ1×2)[26]/45,X.ishXp11.1q11.1 (DXZ1×1)[24];
nuc ishXcen(DXZ1×1)[477]/(DXZ1×2)[523]
45,X/46,X,+mar 38/62 45,X.ishXp11.1q11.1(DXZ1×1)[19]/46,X,mar(X). ishXp11.1q11.1(DXZ1×2)[31];
nuc ishXcen(DXZ1×1)[487]/(DXZ1×2)[513]
45,X/46,X,+mar 48/52 46,X,mar(X).ishXp11.1q11.1(DXZ1×2)[21]/45,X.ishXp11.1q11.1 (DXZ1×1)[19];
nuc ishXcen(DXZ1×1)[487]/(DXZ1×2)[513]
45,X/46,X,+mar/46,X,i(Xq)/47,XX,i(Xq) 30/26/24/20 45,X.ishXp11.1q11.1(DXZ1×1)[15]/46,X,mar(X).ishXp11.1q11.1(DXZ1×2)[13]/46,X,i(X)(q10)(DXZ1×2)[12]/47,XX,i(X)(q10) (DXZ1×3)[10];
nuc ishXcen(DXZ1×1)[277]/(DXZ1×3)[200]/ (DXZ1×2)[523]
45,X/46,X,mar 26/74 45,X.ishXp11.1q11.1(DXZ1×1)[13]/46,XX.ishXp11.1q11.1(DXZ1×2)[37];
nuc ishXcen(DXZ1×1)[209]/(DXZ1×2)[791]
  1. *Cytogenetic analysis revealed cells with following karyotypes: 49,XXX,+mar,+mar; 48,XXX,+mar; 46,X,+mar; these karyotypes have not been detected by FISH