Familial Balanced Reciprocal Translocation [t(16;22)(p11;q13)mat] in a Child With Constitutional Short Stature
Bibliographic record
Abstract
One of the reasons of most frequent application to Clinics of Pediatric Endocrinology is short stature. The major reasons are familial short stature, constitutional delay, systematic diseases, lack of nutrition and endocrine disorders. Chromosomal analysis is required for cases whose reason cannot be detected and especially has a dysmorphic appearance. Our patient was a 12 year old boy who had applied due to complaint of short stature, with no detected pathology in routine examinations and in whom reciprocal translocation that scoped chromosomes number 16 and 22 in the cytogenetic analysis conducted in the Genetic Diagnosis Laboratory was detected. In the cytogenetic examination conducted on family members, it has been detected that the child’s mother and mother’s father carried the same translocation, however, did not have any visible physical anomalies. According to the literature data at hand, our patient is the first short stature case that is a carrier of balanced reciprocal translocation between the 16 and 22 numbered chromosomes. In this study, the patient’s clinical and laboratory characteristics, detailed family history and genetic study results are discussed under the light of the literature information. doi:10.4021/jmc534w
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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 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.001 | 0.002 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 0.001 |
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".