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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
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Molecular Cytogenetics

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