An association between sex chromosomal aneuploidy in sperm and an abortus with 45,X of paternal origin: possible transmission of chromosomal abnormalities through ICSI
Source: Human Reproduction, Volume 19, Number 1, January 2004 , pp. 147-151(5)
Publisher: Oxford University Press
Abstract:BACKGROUND: Although it has been speculated that the increased de‐novo chromosomal abnormalities in ICSI pregnancies may be associated with an increase of aneuploidy in sperm from infertile men, little direct evidence exists to support this claim. We studied sperm from an infertile man 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 oligozoospermia. Spontaneous aborted material was subjected to cytogenetic and molecular tests to ascertain the existence, type and origin of a chromosomal abnormality. Sperm from the man 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 patient 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 XY disomy, 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 chromosomal abnormality from sperm to the conceptus through ICSI.
Document Type: Research Article
Publication date: January 2004
- Human Reproduction features full-length, peer-reviewed papers reporting original research, clinical case histories, as well as opinions and debates on topical issues. Papers published cover the scientific and medical aspects of reproductive physiology and pathology, endocrinology, andrology, gonad function, gametogenesis, fertilization, embryo development, implantation, pregnancy, genetics, genetic diagnosis, oncology, infectious disease, surgery, contraception, infertility treatment, psychology, ethics and social issues. The highest scientific and editorial standard is maintained throughout the journal along with a rapid rate of publication.