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CHROMOSOME STUDIES IN CONNECTION WITH SEX CHROMOSOMAL DEVIATIONS IN MAN

2009· article· en· W2017080556 on OpenAlexafffund
J. Reitalu

Bibliographic record

VenueHereditas · 2009
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Canadian institutionsInstitute of Genetics
FundersInstitute of GeneticsNational Cancer InstituteCancerfonden
KeywordsBiologyGeneticsGenealogyHistory

Abstract

fetched live from OpenAlex

. Heterochromatin during interphaseWork on sex chromatin was started in 1956 on liver cells from 6 human embryos, 3 male and 3 female (REITALU, 1957 a).Interphase structures of normal mesothelial cells of the mouse were compared with Ehrlich-LettrC ascites cells of the mouse (REITALU, 1957 b).In the rat, liver cells from 4 male and 4 female individuals, representing ages from 5 to 180 days, were analyzed (REITALU, 1958).The studies on various types of heterochromatin in man were initiated on embryonic fibroblasts, but the main work was done on leukocytes and to some degree on buccal mucosa cells.In all, 15 normal individuals, 10 male and 5 female, were studied (LIMA-DE-FARIA et a!., 1961, 1965; LIMA-DE-FARIA and REITALU, 1063, 1964). Chromosomes of patients with clinical syndromes and normal personsThis work was initiated in September 1958, when Professor H. NOWA-KOwSKI paid a visit to our laboratory in search for cytogenetic collaboration to have his KS patients examined chromosomally.It was decided to have cells from the patients sent to Lund, grown in the Institute of bacteriology by Professor S. BERGMAN, prepared for chromosome study and analyzed by the writer.The material received from Dr. NOWAEOWSKI was later added to by Swedish material of various sex chromosomal syndromes, and to date 31 individuals have been analyzed in this project.The entire material is collected in Table 1, in which the identification numbers of the individuals dealt with in the present paper (column 1) are related to the numbers under which these individuals were originally described in the separate papers (last column).Here the material is listed according to clinical syndrome and chromosomal characteristics.Nos.1-1 1 are phenotypic females, 12-31 phenotypic males.Of the former, two (Nos.1-2) were genotypic males, with negative sex chromatin.Nos.3-5 were women with Turner's syndrome (TS) and negative sex chromatin, while in the rest-6 women with primary amenorrhoea (Nos.6-11) and 19 KS patients (Nos.12-31)-sex chromatin was positive.Various data, age, height, intelligence, are recorded in the table even though they will not be discussed in the present context, in which chromosomes will be exclusively considered.Chromosome numbers and 16015223,

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)0.001
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: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.003
Threshold uncertainty score0.009

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0020.001
Science and technology studies0.0000.001
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 head0.027
GPT teacher head0.309
Teacher spread0.281 · 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

Citations19
Published2009
Admission routes2
Has abstractyes

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