Human Reproduction, Vol. 14, No. 7, 1840-1841,
July 1999
© 1999 European Society of Human Reproduction and Embryology
A hypothesis on the origin of germ cell mutation and evolutionary role of extraembryonic mutation: Opinion
Sydney IVF, 4 O'Connell Street, Sydney, NSW, 2000, Australia
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Introduction |
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Intracytoplasmic sperm injection (ICSI) has provoked debate and interest in genetics (Persson et al., 1996
). An interesting observation has been the finding of an excess of sex chromosome aneuploidy in ICSI offspring (Tournaye et al., 1997). It has been postulated that these errors are paternally derived. Interestingly, in the follow-up examination of eight ICSI pregnancies affected by sex chromosome aneuploidy the fathers were not found to have peripheral blood evidence of sex chromosome aneuploidy (M.Bonduelle, personal communication). A finding that would suggest confined germ cell 46,XY/47,XXY mosaicism in the fathers as a possible cause and these parents should be advised of an increased risk of recurrence. The normal prevalence of Klinefelter syndrome is 1 in 1000 live births (Nielsen and Wohlert, 1990). Recently performed molecular genotyping of the X-chromosomes |
References |
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