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Table 2 Overview of TSM associated with isochromosomes

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,i(Xq)/46,XX 60/30/10 45,X.ishXp11.1q11.1(DXZ1×1)[30]/46,X,i(X).ishXp11.1q11.1(DXZ1×2)[15]/ 46,XX. ishXp11.1q11.1(DXZ1×2)[5];
nuc ishXcen(DXZ1×1)[321]/(DXZ1×2)[679]
45,X/46,X,i(Xq)/46,XX 40/26/34 45,X.ishXp11.1q11.1(DXZ1×1)[20] /46,X,i(X).ishXp11.1q11.1(DXZ1×2)[13]/46,XX.ishXp11.1q11.1(DXZ1×2)[17];
nuc ishXcen(DXZ1×1)[487]/(DXZ1×2)[513]
45,X/46,X,i(Xq) 32/68 46,X,i(X).ishXp11.1q11.1(DXZ1×2)[34]/45,X.ishXp11.1q11.1 (DXZ1×1)[16];
nuc ishXcen(DXZ1×1)[389]/(DXZ1×2)[211]
45,X/46,X,i(Xq) 74/26 45,X.ishXp11.1q11.1(DXZ1×1)[37]/46,X,i(X).ishXp11.1q11.1(DXZ1×2)[13];
nuc ishXcen(DXZ1×1)[717]/(DXZ1×2)[283]
45,X/46,X,i(Xq) 44/56 46,X,i(X).ishXp11.1q11.1(DXZ1×2)[28] /45,X.ishXp11.1q11.1(DXZ1×1)[22];
nuc ishXcen(DXZ1×1)[499]/(DXZ1×2)[501]
45,X/46,X,i(Xq) 36/64 46,X,i(X).ishXp11.1q11.1(DXZ1×2)[32]/45,X.ishXp11.1q11.1(DXZ1×1)[18];
nuc ishXcen(DXZ1×1)[214]/(DXZ1×2)[786]
45,X/46,X,idic(X)(q22.2) 24/76 46,X,idic(X).ishXp11.1q11.1(DXZ1×3)[38]/45,X.ishXp11.1q11.1(DXZ1×1)[12];
nuc ishXcen(DXZ1×3)[613]/(DXZ1×1)[387]
45,X/46,X,i(X)(q11.1) 43/57 46,X,i(X). ishXp11.1q11.1(DXZ1×2)[17]/45,X.ishXp11.1q11.1(DXZ1×1)[13];
nuc ishXcen(DXZ1×1)[413]/(DXZ1×2)[587]
45,X/46,X,idic(X)(p11.4)/ 46,XX 34/52/14 46,X,idic(X).ishXp11.1q11.1(DXZ1×3)[26]/45,X.ishXp11.1q11.1(DXZ1×1)[17]/46,XX. ishXp11.1q11.1(DXZ1×2)[7];
nuc ishXcen(DXZ1×1)[389]/(DXZ1×3)[300]/ (DXZ1×2)[211]
45,X/46,X,idic(X)(p11.3) 32/68 46,X,idic(X).ishXp11.1q11.1(DXZ1×3)[34]/45,X.ishXp11.1q11.1(DXZ1×1)[16];
nuc ishXcen(DXZ1×3)[623]/(DXZ1×1)[377]
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]