Table 2

Previous studies indicating paternal T21 germ line mosaicism

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

* The proportion of T21 cells was not reported

Hultén et al. Molecular Cytogenetics 2010 3:4   doi:10.1186/1755-8166-3-4