WORKSHOP BOOK Fluorescent in Situ Hybridisation - FISH - on Human Sperm
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Paternally derived aneuploidies<br />
A 2x <str<strong>on</strong>g>in</str<strong>on</strong>g>crease <str<strong>on</strong>g>in</str<strong>on</strong>g> disomy frequency for chromosomes 21<br />
and XY <str<strong>on</strong>g>in</str<strong>on</strong>g> fathers of paternally derived Down, Turner and<br />
Kl<str<strong>on</strong>g>in</str<strong>on</strong>g>efelter syndromes.<br />
Arnedo et al, 2006; Templado et al, 2011<br />
A 2.3x <str<strong>on</strong>g>in</str<strong>on</strong>g>crease <str<strong>on</strong>g>in</str<strong>on</strong>g> sex chromosome disomy frequency <str<strong>on</strong>g>in</str<strong>on</strong>g><br />
men with repeated sp<strong>on</strong>taneous aborti<strong>on</strong>s<br />
Collodel et al, 2009; Robio et al, 1999<br />
Hands-<strong>on</strong> Workshops, Thessal<strong>on</strong>iki, 30.08 – 05.09 2014<br />
9<br />
C<strong>on</strong>clusi<strong>on</strong>: General Populati<strong>on</strong><br />
In the general populati<strong>on</strong> the estimated total paternally<br />
derived aneuploidy risk is low.<br />
However, am<strong>on</strong>g fertile men, some may c<strong>on</strong>sistently<br />
produce higher levels of aneuploidy (stable variants) at least<br />
for a number of disomies.<br />
In such cases the risk of father<str<strong>on</strong>g>in</str<strong>on</strong>g>g an aneuploid offspr<str<strong>on</strong>g>in</str<strong>on</strong>g>g or<br />
recurrent aborti<strong>on</strong> is moderately <str<strong>on</strong>g>in</str<strong>on</strong>g>creased.<br />
Rubes et al, 2002, 2005; Tempest et al, 2009; Uroz et al, 2011<br />
Hands-<strong>on</strong> Workshops, Thessal<strong>on</strong>iki, 30.08 – 05.09 2014<br />
10
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