Prenatal diagnosis ofde novo proximal interstitial deletion of 9q and review of the literature of uncommon aneuploidies associated with increased nuchal translucency
Bibliographic record
Abstract
OBJECTIVES: To present the prenatal diagnosis and molecular cytogenetic analysis of de novo proximal interstitial deletion of 9q and to review the literature of uncommon aneuploidies associated with increased nuchal translucency (NT). CASE: Obstetric ultrasound at 11 weeks' gestation revealed an increased NT thickness of 6.6 mm in a 31-year-old primigravid woman. At 13 weeks' gestation, repeat ultrasound examinations revealed a normal NT thickness of 1.8 mm. The subcutaneous nuchal fluid accumulation was no longer present at the following ultrasound scans. An amniocentesis was performed at 18 weeks' gestation. RESULTS: Cytogenetic analysis revealed a karyotype of 46,XX,del(9)(q21.1q22.2). The parental karyotypes were normal. At 21 weeks' gestation, a 442-g female fetus was delivered with low-set ears, hypertelorism, and a thick nuchal fold. The parental origin of the interstitial deletion of 9q was analyzed with polymorphic DNA markers. With the microsatellite markers D9S238 (9q13), D9S889 (9q21.11), and D9S253 (9q22.2), two alleles inherited from the parents were seen in the proband, but with markers D9S1780 (9q21.31), D9S303 (9q21.32), D9S252 (9q21.33), and D9S316 (9q22.1), only one maternal allele was present. The deletion was of paternal origin. CONCLUSIONS: Fetuses with uncommon aneuploidies may manifest increased NT in the first trimester. The present case provides evidence for a correlation between increased NT and interstitial 9q deletion. Prenatal identification of increased NT should alert subtle structural chromosome aberrations and prompt high-resolution karyotyping.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.004 | 0.002 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.001 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.001 | 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 source (direct Gemma or distilled Codex), 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".