P666: Kagami-Ogata syndrome due to uniparental isodisomy 14 and a small supernumerary marker chromosome
Why this work is in the frame
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Bibliographic record
Abstract
Kagami-Ogata syndrome (KOS) is an imprinting disorder primarily caused by paternal hetero- or isodisomy UPD14 in approximately 66% of cases. Alternatively, it can result from a deletion or epimutation of the maternally inherited chromosome 14q32 region. In contrast, Temple syndrome is caused by maternal UPD14 or a paternal deletion 14q32. The prognosis with KOS can be poor due to respiratory complications. While most cases of UPD14 are pure UPD, some cases have chromosome abnormalities such as a Robertsonian translocation involving chromosome 14, segmental UPD14, or an isodicentric 14q13. Instances of UPD14 in association with a small supernumerary marker chromosome (SSMC) derived from chromosome 14 have been previously reported in one prenatal case as well as in an individual with mosaicism for an SSMC derived from chromosome 14. Notably, SSMC’s have also been noted in association with UPD for other chromosomes. A 33 yo woman GTPAL63113 had amniocentesis for a previous baby with ISPD-related Walker-Warburg syndrome. Results showed that the fetus was unaffected, and qPCR showed no aneuploidy. At 21+4 weeks' gestation, the fetal anatomy scan revealed a small stomach, raising suspicion for esophageal atresia. Progressive polyhydramnios ensued, with premature delivery of a large-for-gestational-age male infant at 26+6 weeks gestation. Birth weight was 1.34 kg (99th percentile), length 34 cm (35th percentile) and head circumference 26.5 cm (93rd percentile). The baby was edematous with wrinkled loose skin. Features included a third fontanelle, brachycephaly, small posteriorly rotated and low-set ears, short wide neck, small penis, bilateral cryptorchidism, camptodactyly of fingers, rocker bottom feet, and hypotonia. He made no attempts to breathe and required high-frequency oscillation. An orogastric tube could not be passed at birth but was subsequently inserted at 2 weeks, ruling out esophageal atresia. His respiratory status remained unstable, requiring maximal ventilatory support, with death at 1 month of age. Microarray was performed and no genomic imbalance was found [Infinium CytoSNP-850K v1.3, BeadChip array (Illumina, Inc)], however, there was a large region of AOH >88Mb [arr[hg19] 14q11.2q32.33(19181590_107287663)x2 hmz]. SNP analysis of the baby and the parents confirmed isodisomy UPD14 pat. Chromosome karyotype revealed an SSMC in all cells examined and FISH with DNA probes for the centromere of chromosome 14 and 22 revealed that the SSMC was derived from either chromosome 14 or 22. Parental karyotype was normal. Testing through the EpiSign-CAN research study also revealed the methylation changes in the imprinted region of 14q32 associated with KOS. The EpiSign methylation test can be a valuable screening test for detecting specific methylation changes in the imprinted region of 14q32 associated with KOS, particularly when the classical coat hanger appearance of the ribs is not readily recognized. This method efficiently distinguishes between maternal and paternal UPD without the need for parental samples. However, to identify deletions linked to KOS or Temple syndrome, chromosome microarray analysis is necessary, offering insights into the paternal or maternal origin of UPD or deletion 14q through SNP analysis. While a karyotype is crucial for identifying structural changes like translocations, it becomes particularly important in cases involving a marker chromosome, which might go undetected with microarray analysis, as observed in this case.
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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 | 0.001 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.000 | 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 it