BACKGROUND: Although it has been speculated that the increased de-novo @entity2008 in ICSI pregnancies may be associated with an increase of aneuploidy in sperm from infertile @entity1 , little direct evidence exists to support this claim. We studied sperm from an infertile @entity1 with an abortus from ICSI to determine if increased sex chromosomal aneuploidy in the sperm could have contributed to the karyotype of the abortus. METHODS: The couple underwent ICSI due to severe @entity6660 . Spontaneous aborted material was subjected to cytogenetic and molecular tests to ascertain the existence, type and origin of a @entity2008 . Sperm from the @entity1 were analysed by multi-coloured fluorescent in-situ hybridization (FISH) with probes specific for chromosomes X, Y and 18. RESULTS: At 8+ weeks after embryo replacement, the @entity1 spontaneously miscarried. Both cytogenetic and comparative genomic hybridization analysis of aborted material showed a 45,X karyotype. Origin of the abnormality was established as a loss of the paternal X chromosome. FISH analysis of sperm revealed 19.6% (1990/10,164) nullisomy for a sex chromosome and 18.6% (1886/10,164) with @entity8882 , which is significantly increased when compared to controls with 0.3% (58/20,429) and 0.1% (20/20,429) respectively (P<0.0001). CONCLUSIONS: This study indicates that the paternal origin of the 45,X abortus was likely the result of a high level of nullisomy in the sperm and provides evidence for the transmission of @entity2008 from sperm to the conceptus through ICSI.

An association between sex chromosomal aneuploidy in sperm and an abortus with 45,X of paternal origin: possible transmission of XXXX through ICSI.

@entity1 :: ('9606', 'Species') :: ['patient', 'man', 'men'] @entity2008 :: ('MESH:D002869', 'Disease') :: ['chromosomal abnormality', 'chromosomal abnormalities'] @entity6660 :: ('MESH:D009845', 'Disease') :: ['oligozoospermia'] @entity8882 :: ('MESH:D024182', 'Disease') :: ['XY disomy']
@entity2008 :: (MESH:D002869,Disease) :: ['chromosomal abnormalities']
