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Table 2 Previous studies indicating paternal T21 germ line mosaicism

From: On the paternal origin of trisomy 21 Down syndrome

No. of DS pregnancies Percentage T21 Cells (%)
Paternal Tissue Sample
Proportion of T21 mosaic fathers (%) Reference
  Blood    Skin Testis/Sperm Parental dermatoglyphics  
      1 Penrose 1965 [40]
2 *      Massimo et al. 1967 [36]
1 23,3      Walker and Ising 1969 [48]
1 (Family 1) 0   7,5 4 (testicular fibroblasts)
14,3 (spermatocytes)
23 (spermatogonia)
  Hsu et al. 1971 [34]
1 (Family 2) 6      
1 (Family 3) 4,6   4    
      8 Priest et al. 1973 [41]
1 6,7      Mehes et al. 1973 [37]
1 (Case 9) 6,7      Richards 1974 [42]
1 6      Papp et al. 1974 [39]
1 (Familie T) 11      Domány and Métneki 1976 [32]
1 (Familie K) 15      
      2 Schmidt et al. 1981 [45]
1 3-5      Rodewald et al. 1981 [43]
1 (Family 8) 1      Uchida et al. 1985 [47]
1 (Family 9) 1      
1 (Family 10) 1      
3 (Family A) 0   22    Sachs et al. 1990 [44]
2 (Family RDS-02) 2      Pangalos et al. 1992 [38]
1 2      Casati et al. 1992 [31]
1 (DP-4)     0,75 (sperm)   Blanco et al. 1998 [30]
1 (DP-5)     0,78 (sperm)   
1 (P19) 1,5      Frias et al. 2002 [33]
2 (P24) 1,3      
2 (P25) 1,5      
4/13 embryos 0    6,6 (sperm)   Somprasit et al. 2005 [46]
1 (Family A) *      Kovaleva et al. 2007 [35]
1 (Family V) 1,4      
1 (Family S) 6,7      
  1. * The proportion of T21 cells was not reported