Table 2.
Recommendations for Detection of Chromosomal Mosaicism and SGV
Source | Area of Application | Detection Rate | Amount of Cells to Score |
---|---|---|---|
Hsu et al., 1992 [49] | Prenatal diagnosis by cytogenetic techniques | 0.5% (1 cell)* | 200 |
Caudill et al., 2005 [50] | Prenatal diagnosis by cytogenetic techniques | 15% | 15-30 |
Vorsanova et al., 2005 [12] | Fetal aneuploidy by molecular cytogenetic techniques | <5% | 300-500 |
Yurov et al., 2005 [39]; 2007 [29, 41]; 2008 [42]; Iourov et al., 2006 [3]; 2009 [38]. | Chromosome abnormalities or SGV by molecular cytogenetic techniques | <0.1% | 1000-10000 |
Iourov et al., 2009 [36, 37] | Chromosome instability or SGV by molecular cytogenetic techniques | 0.1-1% | 1000-10000 |
Iourov et al., 2006 [40]; 2009 [38] | Chromosome abnormalities or SGV by molecular cytogenetic techniques | <0.5% (1 cell)* | >100 |
Wiktor et al., 2009 [51] | Sex chromosome aneuploidy by cytogenetic techniques | >3% (1 cell) | 20-30 |
– pseudomosaicism.