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Table 1 Results of cytogenetic analysis in monosomy × patients

From: Diversity of sex chromosome abnormalities in a cohort of 95 Indonesian patients with monosomy X

Karyotype and FISH results Karyotyping only (Number of cases) FISH only (Number of cases) Karyotyping and FISH* (Number of cases)
45,X and/or nuc ish (DXZ1x1) 35 2 2
mos 45,X/46,XX and nuc ish (DXZ1x1)//(DXZ1x2) 4 0 1
nuc ish (DXZ1x1)//(DXZ1x2)//(DXZ1x3) 0 0 2
mos 45,X/47,XXX 1 0 0
mos 45,X/46,X,i(X)(q10) 10   
mos 45,X/46,X,idic(X)(q22) 1   
mos 45,X/46,X,i(X)(q10)/47,X,i(X)(q10)+Xp 1   
mos 45,X/46,X,i(X)(q10)/47,X+i(X)(q10)x2 2   
mos 45,X/46,XY and/or nuc ish (DXZ1x1)//(DYZ3x1) 1 1 4
mos 45,X/46,XY/46,X,+mar 1   
nuc ish (DXZ1x1)[256]//(DXZ1x2)[1]//(DXZ1,DYZ3)[40]//(DXZ1,DYZx2)[3]   1  
mos 45,X/46,X,r(Y)(p?q?) 1   
mos 45,X/46,X,del(Y)(q10) 1   
mos 45,X/46,X,inv(Y) 2   
Total 60 4 9
  1. FISH: Fluorescence In Situ Hybridization; * data presented only for cases showed no results discrepancies in karyotyping and FISH.
  2. The analyses were performed using karyotyping, FISH, and combination of karyotyping and FISH techniques. Sixty cases underwent karyotyping only, four cases FISH only. Nine cases, who underwent both karyotyping and FISH, showed no results deviations.