A Mongol Girl With 46 Chromosomes

Polani, P. E.; Briggs, Jack; Ford, C. E.; Clarke, Carolyn; Berg, J. M.

doi:10.1016/s0140-6736(60)90614-0

Cited by 258 publications

(46 citation statements)

References 15 publications

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“…Chiasma formation and chromosome pairing may clearly be considerably affected by developmental differences such as might occur in the ovum of the ageing mother. In fact Polani et al (1960) have suggested a specific mechanism for the way this might happen, in terms of the possible effects of maternal age on the nucleolar organiser which is on the chromosome associated with mongolism. Many congenital abnormalities of the nervous system in humans are known to increase in incidence with increasing maternal age.…”

Section: Discussionmentioning

confidence: 99%

Viability effects and recombination differences in a linkage test with pallid and fidget in the house mouse

Bodmer

1961

Heredity

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Section: Discussionmentioning

confidence: 99%

Viability effects and recombination differences in a linkage test with pallid and fidget in the house mouse

Bodmer

1961

Heredity

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“…Polani et al (1960) have suggested that the maternal enviromnent of the primary oocytes which are perhaps differentiated before birth will change with age and such developmental changes may affect the efficiency of chromosome pairing at meiosis and hence alter the recombination fraction of the females (see also Parsons, I 962). Perhaps in the case of males where meiosis occurs later the effect of age differs from that in females.…”

mentioning

confidence: 99%

Sex of parent and variation of recombination with age in the mouse

Reid

Parsons

1963

Heredity

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Differences in recombination between sexes in the mouse occur frequently (see, for example, Castle, 1925;Parsons, 1958;Bodmer, 1961). Significant effects of maternal age on recombination are, however, less common. It is the purpose of this paper to present evidence for variability of recombination with age which differs between sexes.In the fifth linkage group, the order of the genes being agouti-undulatedpallid-fidget, Fisher (1949) found that the recombination fraction between agouti and undulated decreased with age in both sexes, with no significant difference between sexes. Wallace (1957), however, found a slight increase in recombination with age of heterozygous males in the segment agoutifidget which includes the agouti-undulated segment studied by Fisher, with no significant effect in females. Bodmer (1961) found that the recombination fraction between pallid and fidget decreased with age of female heterozygotes ; the data from male heterozygotes being perhaps inadequate to show any trend.With these observations in mind, some data for linkage group XIII previously analysed by Parsons (1958) were re-examined for age effects in the segment leaden (ln)-fuzzy (fz). The other mutants used by Parsons, polydactyly and Splotch, were omitted from this analysis as they are both liable to be misclassified. In particular the manifestation of polydactyly varies with the age of the maternal parent (Holt, 7948).The data for ln-fz are presented in table i. The recombination fraction appears to fall with age of female heterozygous parents, but with male parents, if anything, it increases. To test these trends further it is necessary to compute weighted regressions of the recombination fractions on time. The recombination fractions must be transformed using the angular transformation a = sin\/p where p is the percentage of recombinants, and a the transformed value of p (see table r), then a will have a variance of I i8o 2 -(_-) where n is the number of offspring counted to give p. Thevariance of a is therefore independent of p. This procedure was used by Fisher (7949) in his analysis of recombination between agouti and undulated.From the female parents there is a decrease in the regression of a on t of o57° per two months which is not significant, but from the males there is an increase of o87° per two months sub-significant at the io per cent. level. The difference between the two regressions was significant at the 24 per cent, level and almost at the i per cent, level. The mean recombination values also differed as expected from Parsons' (7958) results such that 107

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“…In 1960, Paul Polani and Charles Ford suggested that it could also arise from a chromosomal defect known as a reciprocal translocation. 31 Polani later confirmed this proposal in a paper published with Cedric O. Carter, a A standard system of nomenclature for human mitotic chromosomes was ultimately established in 1960. 33 The classificatory system facilitated greater cooperation between scientists in France, Sweden, Japan, North America, and the UK, as well as enhancing the diagnostic potential of cytogenetics in clinical medicine.…”

Section: Heredity Genetics and Medicine In Britainmentioning

confidence: 92%

Ideas about heredity, genetics, and ‘medical genetics’ in Britain, 1900–1982

Leeming

2005

Studies in History and Philosophy of Science Part C: Studies in

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Abstract:The aim of this paper is to understand how evolving ideas about heredity and genetics influenced new medical interests and practices and, eventually, the formation of 'medical genetics' as a medical specialism in Britain. I begin the paper by throwing highlight on the social and institutional changes through which these ideas passed. I argue that, with time, there was a decisive convergence in thought that combined ideas about the familial aspects of heredity and the health needs of populations with an omnibus 'genetic' approach to health and illness that focused on the structures and activities of chromosomes and genes in individuals. I show how this convergence in thought was spurred on, first, by innovations in genetic science and technology in the after 1960, and, second, by negotiated protocols and standards of medical practice worked out by bodies such as the relevant royal colleges, the linked associations and societies for medical professionals, affected training and research authorities, and the state. The notion of 'medical genetics' in Britain consequently gained a semblance of unanimity over its basic reference points and arrived at a meaning directly tributary to current acceptance of the term in the context of a medical specialism.

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A Mongol Girl With 46 Chromosomes

Cited by 258 publications

References 15 publications

Viability effects and recombination differences in a linkage test with pallid and fidget in the house mouse

Viability effects and recombination differences in a linkage test with pallid and fidget in the house mouse

Sex of parent and variation of recombination with age in the mouse

Ideas about heredity, genetics, and ‘medical genetics’ in Britain, 1900–1982

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