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Patricia Jacobs

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Patricia Ann Jacobs
OBE FRSE FRS FMedSci FRCPath
Born (1934-10-08) 8 October 1934 (age 89)
NationalityBritish
EducationUniversity of St Andrews
Known forKlinefelter syndrome
XYY syndrome
Trisomy X
Philadelphia Chromosome
SpouseNewton Morton
AwardsMauro Baschirotto Award (1999)
March of Dimes Prize in Developmental Biology (2011)
William Allan Memorial Award
KS&A Patricia Jacobs Lifetime Achievement Award
Scientific career
Institutions
Thesis Cytogenetic studies (1966)
Websitesouthampton.ac.uk/medicine/about/staff/pj2f09.page

Patricia Ann Jacobs OBE FRSE FRS FMedSci FRCPath (born 8 October 1934) is a Scottish geneticist and is Honorary Professor of Human Genetics, Co-director of Research, Wessex Regional Genetics Laboratory, within the University of Southampton.

Early life and education

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Jacobs was born on 8 October 1934 to Sadie (née Jones) and Cyril Jacobs. She attended the University of St Andrews, graduating in 1956 with a BSc with first class honours in zoology.[1][2]

Career and research

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In 1959, five days after Jérôme Lejeune described the trisomy-21[3] in Down syndrome, basing himself off Marthe Gautier's work,[4] Jacobs and John Strong described an additional X chromosome in male patients (the 47,XXY karyotype)[5] also known as Klinefelter syndrome, as Harry Klinefelter had already diagnosed the symptoms in 1942. Despite her work being on XXY syndrome, the XYY syndrome is instead sometimes called Jacobs syndrome:[6] After it had been incidentally discovered by Avery Sandberg in 1961,[7] the syndrome was also found in a chromosome survey of 315 men at a hospital for developmentally disabled, made by Jacobs and hence considered the first little research on it.[8] However, the experimental design had many flaws, including small sample sizes, biased sampling, and poor definition of the phenotype "aggression", resulted in the mischaracterization of XYY individuals as aggressive and violent criminals, which led the path for many biased studies on height-selected, institutionalised XYY individuals in the following decades.[9][10][11]

Awards and honours

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Jacobs has received many awards in recognition of her work, including the 1999 Mauro Baschirotto Award of the European Society of Human Genetics and the 2011 March of Dimes Prize in Developmental Biology. Her services to genetics saw her named an OBE in 1999.[1] Jacobs was elected as a Foreign Associate of the US National Academy of Sciences in 2010.[2]

In 1981, she received the William Allan Memorial Award from the American Society of Human Genetics.[2] In 1993, she was elected a Fellow of the Royal Society.[1][12] She was the first recipient of the KS&A Patricia Jacobs Lifetime Achievement Award from the US charity Knowledge Support & Action.[13] In February 2010, Jacobs was elected as a member of the United States National Academy of Sciences, the induction ceremony took place in April.[14] In 2011, Jacobs received the March of Dimes Prize in Developmental Biology.[15]

Personal life

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In 1972 she married Newton Morton. She has two step-daughters and three step-sons.[1]

References

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  1. ^ a b c d "Jacobs, Prof. Patricia Ann, (born 8 Oct. 1934), Co-Director of Research, Wessex Regional Genetics Laboratory, 2001–15 (Director, 1988–2001)", Who's Who, Oxford University Press, 1 December 2007, doi:10.1093/ww/9780199540884.013.u21706, ISBN 978-0-19-954088-4, retrieved 5 August 2018
  2. ^ a b c Hamerton, J L (September 1982). "The William Allan Memorial Award. Presented to Patricia A. Jacobs, D.Sc., at the annual meeting of the American Society of Human Genetics, Dallas, October 28–31, 1981". American Journal of Human Genetics. 34 (5): 683–688. ISSN 0002-9297. PMC 1685433. PMID 6751074.
  3. ^ LEJEUNE J, GAUTHIER M, TURPIN R (26 January 1959). "Human chromosomes in tissue cultures". Comptes Rendus Hebdomadaires des Séances de l'Académie des Sciences. 248 (4): 602–3. PMID 13629913.
  4. ^ "The Office of Women in Science and Medicine". www.hopkinsmedicine.org. Retrieved 15 January 2024.
  5. ^ JACOBS PA, STRONG JA (31 January 1959). "A case of human intersexuality having a possible XXY sex-determining mechanism". Nature. 183 (4657): 302–3. Bibcode:1959Natur.183..302J. doi:10.1038/183302a0. PMID 13632697. S2CID 38349997.
  6. ^ 47,XYY syndrome on Genetics Home Reference, Other Names. Retrieved 6 August 2017
  7. ^ Sandberg, Avery A.; Koepf, George F.; Ishihara, Takaaki; Hauschka, Theodore S. (26 August 1961). "An XYY human male". The Lancet. 278 (7200): 488–489. doi:10.1016/S0140-6736(61)92459-X. PMID 13746118.
  8. ^ Jacobs, Patricia A.; Brunton, Muriel; Melville, Marie M.; Brittain, Robert P.; McClemont, William F. (25 December 1965). "Aggressive behavior, mental sub-normality and the XYY male". Nature. 208 (5017): 1351–2. Bibcode:1965Natur.208.1351J. doi:10.1038/2081351a0. PMID 5870205. S2CID 4145850.
  9. ^ Green, Jeremy (1985). "Media sensationalism and science: The case of the criminal chromosome". In Shinn, Terry; Whitley, Richard (eds.). Expository science: Forms and functions of popularisation. Dordrecht, Holland: D. Reidel Pub. Co. pp. 139–161. ISBN 978-90-277-1831-0.
  10. ^ Beckwith, Jonathan R. (2002). "The myth of the criminal chromosome". Making genes, making waves: A social activist in science. Cambridge, Massachusetts: Harvard University Press. pp. 116–134. ISBN 978-0-674-00928-8.
  11. ^ Milunsky, Jeff M. (2010). "Prenatal diagnosis of sex chromosome abnormalities". In Milunsky, Aubrey; Milunsky, Jeff M. (eds.). Genetic disorders and the fetus: diagnosis, prevention and treatment (6th ed.). Oxford: Wiley-Blackwell. pp. 273–312. ISBN 978-1-4051-9087-9. The addition of a Y chromosome to a normal male chromosome constitution does not produce a discernible phenotype. Males with 47,XYY cannot be characterised by discriminating physical or behavioural features. The first diagnosis of this condition, therefore, was a karyotypic and not a phenotypic discovery.
    Pubertal development is normal and these men are usually fertile.
  12. ^ The Royal Society website. Retrieved 21 July 2008 Archived 9 June 2008 at the Wayback Machine
  13. ^ "Knowledge Support & Action – Patricia Jacobs Lifetime Achievement Award". Archived from the original on 8 June 2008.
  14. ^ "Top honour for scientist". Salisbury Journal. 16 February 2010. Retrieved 13 June 2017.
  15. ^ "Salisbury District Hospital Geneticist Wins International Honour". salisbury.nhs.uk. Archived from the original on 14 October 2017. Retrieved 13 June 2017.
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