WORKSHOP BOOK Fluorescent in Situ Hybridisation - FISH - on Human Sperm

Interchromosomal Effect (ICE)
Aneuploidies for chromosome pairs not <strong>in</strong>volved <strong>in</strong> the
chromosomal rearrangement. A potential consequence of
meiotic disturbances produced by the rearrangements (Lejeune,
1963, Alfarawati et al, 2012).
54% of men with Robertsonian translocations, 44% of reciprocal
translocation carriers and 7% of men with <strong>in</strong>versions have been
reported to carry an added aneuploidy load <strong>in</strong> the form of an ICE
(reviewed <strong>in</strong> Anton et al, 2011)
Hands-on Workshops, Thessaloniki, 30.08 – 05.09 2014
17
Numerical Chromosomal Abnormalities
Kl<strong>in</strong>efelter syndrome (47, XXY)
The risk of sex chromosome aneuploidy averages 4-6%, much lower
than what is theoretical expected (Tempest, 2011; Fullerton et al,
2010, and Blanco et al, 2001)
47, XYY
The theoretically expected risk of produc<strong>in</strong>g unbalanced gametes is
50%, but the real risk measured ranged from 0-4.2% (Benet et al,
1988; Shi et al, 2001, Blanco et al, 2001)
Hands-on Workshops, Thessaloniki, 30.08 – 05.09 2014
18