Duplication of chromosome 1q32.1q44: presented with ventriculomegaly and transient myeloproliferative disorder of the newborn
Bibliographic record
Abstract
Objectives: Partial trisomy of chromosome 1 has been reported following unbalanced translocations with partial monosomies of other chromosomes and rarely as a pure partial duplication. We aim to discuss partial trisomy 1q with cytogenetics and describe our findings of this uncommon chromosomal aneuploidy. Case presentation: A male term neonate presented with antenatal ventriculomegaly and early fetal growth restriction. He was dysmorphic at birth and his postnatal course was complicated by transient myeloproliferative disorder, neonatal seizures, skin rash, conjugated hyperbilirubinemia, and milk protein allergy. Etiological work-ups including congenital infections, immunological disorders, and inborn error of metabolisms were negative. The findings of transient myeloproliferative disorder in association with partial 1q trisomy which have not been previously described in the literature, raise the possibility of abnormal vasculature of generalized nature, resulting in cutis marmorata, signs of intestinal inflammation, and abnormal cerebral vascular supply. Conclusions: This case study highlights the importance of pooling cases with similar locations of duplication, segment size, and related chromosomal deficiency together to understand distinct clinical phenotypes.
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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 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 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".