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Table 3 Overview of TSM associated with ring 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,r(X)/46,XX

24/68/8

45,X.ishXp11.1q11.1(DXZ1×1)[12]/46,X,r(X).ishXp11.1q11.1(DXZ1×2)[34]/46,XX. ishXp11.1q11.1(DXZ1×2)[4];

nuc ishXcen(DXZ1×1)[209]/(DXZ1×2)[791]

45,X/46,X,r(X)(p21q21)

43/57

46,X,r(X).ishXp11.1q11.1(DXZ1×2)[23]/45,X.ishXp11.1q11.1(DXZ1×1)[17];

nuc ishXcen(DXZ1×1)[289]/(DXZ1×2)[211]

45,X/46,X,r(X)

28/72

46,X,r(X).ishXp11.1q11.1(DXZ1×2)[36]/45,X.ishXp11.1q11.1(DXZ1×1)[14];

nuc ishXcen(DXZ1×1)[389]/(DXZ1×2)[411]

45,X/46,X,r(X)

36/64

46,X,r(X).ishXp11.1q11.1(DXZ1×2)[32]/45,X.ishXp11.1q11.1(DXZ1×1)[18];

nuc ishXcen(DXZ1×1)[550]/(DXZ1×2)[450]

45,X/46,X,r(X)

42/58

46,X,r(X).ishXp11.1q11.1(DXZ1×2)[29]/45,X.ishXp11.1q11.1(DXZ1×1)[21];

nuc ishXcen(DXZ1×1)[489]/(DXZ1×2)[511]

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Molecular Cytogenetics

ISSN: 1755-8166