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Record W2028065582 · doi:10.1159/000130140

Mitotic behavior of a human dicentric Y chromosome

2008· article· en· W2028065582 on OpenAlexaff
K. L. Ying, Elizabeth Ives

Bibliographic record

VenueCytogenetics · 2008
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Canadian institutionsUniversity of Saskatchewan
Fundersnot available
KeywordsDicentric chromosomeBiologyClitorisKaryotypeAnatomyAneuploidyChromosomePathologyGeneticsMedicine

Abstract

fetched live from OpenAlex

45, X/46, XYdic mosaicism in both skin and blood is reported in a six-year-old child presenting at birth with ambiguous genitalia. Examination revealed a greatly enlarged clitoris with perineal hypospadias, a small vagina, and bilateral inguinal hernias containing palpable gonads. Laparotomy and histology demonstrated a normal uterus and tubes with ovotestes in ovarian position. Physical examination was otherwise normal; she had the expected average height and weight for her age and no detectable aberrations of behavior. The dicentric Y chromosome was diagnosed on the basis of direct examination, autoradiography, and fluorescence analysis. Xg-blood grouping confirmed a single, maternally derived Xg locus. Search of suitable metaphases from short blood cultures revealed 104 cells with 46, XYdic; 26 with 45, X; 1 with 47, XYYdic; 2 with 46, XY; and 2 with 47, XYdicYdic. Findings in the skin indicated that the majority of cells were of the 45, X type. Examination of the patient’s blood cells during anaphase and telophase revealed more cells with bridge formation or lagging chromosomes than those from the normal controls. Such observation and the described karyotypes suggest that, although the dicentric Y usually divides normally during mitosis, in certain instances it divides abnormally to give XO and other aberrant cells. Possible mechanisms which may lead to such an unusual chromosome constitution are discussed.

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 distilled prediction

Teacher imitation

Not 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.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.010
Threshold uncertainty score0.563

Codex and Gemma teacher scores by category

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

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 head0.027
GPT teacher head0.281
Teacher spread0.253 · 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 teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designBench or experimental
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

Citations30
Published2008
Admission routes1
Has abstractyes

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