Presentation and Treatment of Subfertile Men with Balanced Translocations: The Cleveland Clinic Experience
Why this work is in the frame
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Bibliographic record
Abstract
INTRODUCTION: Balanced chromosomal translocations are a relatively common (2-7%) finding among infertile couples. We report clinical features of males with translocations at our institution. MATERIALS AND METHODS: Data was collected on men presenting for infertility evaluation between July 2006 March 2010, including presentation, medical history, and infertility treatments. Criteria for genetic evaluation, consisting of karyotype and Y-linked microdeletion assay, included severe oligozoospermia or azoospermia (sperm concentration < 2.5×106/ml) or a history of recurrent miscarriages. RESULTS: Of the 4,612 patients in our male infertility clinic 306 met criteria for genetic evaluation. Three patients had a balanced translocation, of which 2 had Robertsonian translocations, and 1 had a balanced translocation. One patient had normal bulk semen parameters, normal volume azoospermia, and oligoasthenoteratozoospermia. All patients were offered medical genetics consultation. Potential pregnancy outcomes were evaluated using a predictive software package. One patient had intratubular germ cell neoplasia and underwent orchiectomy; subsequent fertility evaluation has been deferred. The other 2 are considering in-vitro fertilization with pre-implantation genetic evaluation. CONCLUSIONS: Given the low incidence of balanced translocations detected in our population, better clinical indicators other than semen parameters or history of recurrent pregnancy loss are needed to determine screening for this finding.
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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