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Record W2035468095 · doi:10.1002/ajmg.a.20693

Analysis of chromosome segregation in sperm from a chromosome 2 inversion heterozygote and assessment of an interchromosomal effect

2004· article· en· W2035468095 on OpenAlexafffund
M. Mikhaail-Philips, Evelyn Ko, Judy Chernos, Calvin Greene, Alfred Rademaker, Renée H. Martin

Bibliographic record

VenueAmerican Journal of Medical Genetics Part A · 2004
Typearticle
Languageen
FieldAgricultural and Biological Sciences
TopicChromosomal and Genetic Variations
Canadian institutionsAlberta Children's HospitalUniversity of Calgary
FundersCanada Research Chairs
KeywordsNondisjunctionChromosomal inversionBiologyAutosomeSpermAneuploidyGeneticsChromosome 18MeiosisChromosomeChromosome 21Fluorescence in situ hybridizationHeterozygote advantageX chromosomeChromosome 9Molecular biologyKaryotypeAlleleGene

Abstract

fetched live from OpenAlex

Using fluorescence in situ hybridization (FISH) analysis, the chromosome segregation of a pericentric inversion of chromosome 2 was studied in spermatozoa. An interchromosomal effect (ICE) was also determined for chromosomes 13, 21, X, and Y. This chromosome inversion included more than 2/3 of the total length of the chromosome and the breaks points were in G-light bands. The frequency of non-recombinant sperm was 55.9%, and that of recombinant sperm was 34.5% (with a 1:1 ratio of duplication of the p arm and deletion of the q arm and vice versa). There was a significantly increased frequency of disomy for chromosome 2 (0.6%) compared to the other autosomes, suggesting that pairing and recombination of the inversion may predispose to nondisjunction. There was no significant difference between the frequencies of aneuploidy for chromosomes 13, 21, X, and Y for the chromosome inversion heterozygote compared to control donors. Thus we did not find evidence for an ICE.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not 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.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.003
Threshold uncertainty score0.009

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0030.000

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.

Opus teacher head0.013
GPT teacher head0.280
Teacher spread0.267 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

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".

Quick stats

Citations93
Published2004
Admission routes2
Has abstractyes

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Same venueAmerican Journal of Medical Genetics Part ASame topicChromosomal and Genetic VariationsFrench-language works237,207