An association between sex chromosomal aneuploidy in sperm and an abortus with 45,X of paternal origin: possible transmission of chromosomal abnormalities through ICSI
Why this work is in the frame
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Bibliographic record
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.
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Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it