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Comment
. 2017 Sep;37(9):946-948.
doi: 10.1002/pd.5108. Epub 2017 Aug 1.

Gonadal mosaicism and non-invasive prenatal diagnosis for 'reassurance' in sporadic paternal age effect (PAE) disorders

Andrew O M Wilkie  1 , Anne Goriely  1
Affiliations
Comment

Gonadal mosaicism and non-invasive prenatal diagnosis for 'reassurance' in sporadic paternal age effect (PAE) disorders

Andrew O M Wilkie et al. Prenat Diagn. 2017 Sep.
No abstract available

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Figures

Figure 1
Figure 1
Diagrammatic representation of the effect of paternal age effect (PAE) mutations on the proportion of cases of gonadal mosaicism. Number of mutations is proportional to area of boxes. Although mosaicism (grey and black boxes) may still occur at the background frequency, its relative prevalence is substantially diluted out for PAE compared with typical mutations, because selfish spermatogonial selection strongly enriches for sporadic mutations (unfilled boxes) originating from the father. In the example shown, ~90% of mutations are attributable to the PAE, but for the most abundant mutations (such as those causing achondroplasia, thanatophoric dysplasia or Apert syndrome), the effect may be more than an order of magnitude greater. The table insert lists the most common congenital disorders caused by PAE mutations.
See this image and copyright information in PMC

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