46,XY/46,XY Chimerism: Prenatal Presentation and Postnatal Outcome
Bibliographic record
Abstract
BACKGROUND: Human chimerism is rare, and most prevalent with discordant chromosomal sex. We report a male 46,XY/46,XY chimera, born through a spontaneously conceived pregnancy to a healthy 32-year-old G1P0 Indian, African, and Scottish female and her 34-year-old healthy Chinese partner. The prenatal presentation and postnatal outcomes are described. METHODS: A prenatal cell-free DNA screening test, amniocentesis with QF-PCR and SNP microarray, and postnatal microarray and FISH study on peripheral blood, placenta, and umbilical cord were used to evaluate chimerism. RESULTS: The prenatal cell-free screening test revealed high risk for triploidy/vanishing twin, but there was no confirmation from early ultrasound. Subsequent QF-PCR on amniocytes showed a profile suggestive of a tetragametic chimera. G-banding showed a 46,XY karyotype. A SNP microarray detected two copy number gains of uncertain significance on chromosome 6q, derived from the father who was a balanced carrier of ins(6;11). A postnatal microarray and FISH study confirmed the presence of two cell lines, each with a 46,XY complement but with different submicroscopic structural changes including recombinant and insertion changes. Clinical evaluations of the child at birth and 8 weeks of age were coordinated to detect the presence of chimeric symptoms. CONCLUSION: With a confirmed incidental finding of 46,XY/46,XY chimerism, we present that underlying same-sex chimerism may be under-recognized.
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How this classification was reachedexpand
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 itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".