Patricia Jacobs Explained

Patricia Ann Jacobs
Honorific Suffix:OBE FRSE FRS FMedSci FRCPath
Birth Date:8 October 1934
Nationality:British
Workplaces:
Education:University of St Andrews
Thesis Title:Cytogenetic studies (1966)
Known For:Klinefelter syndrome
XYY syndrome
Trisomy X
Philadelphia Chromosome
Awards:Mauro Baschirotto Award (1999)
March of Dimes Prize in Developmental Biology (2011)
William Allan Memorial Award
KS&A Patricia Jacobs Lifetime Achievement Award
Spouse:Newton Morton

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

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.

Career and research

In 1959, five days after Jérôme Lejeune described the trisomy-21[1] in Down syndrome, basing himself off Marthe Gautier's work,[2] Jacobs and John Strong described an additional X chromosome in male patients (the 47,XXY karyotype)[3] 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:[4] After it had been incidentally discovered by Avery Sandberg in 1961,[5] 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.[6] 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.[7] [8] [9]

Awards and honours

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. Jacobs was elected as a Foreign Associate of the US National Academy of Sciences in 2010.

In 1981, she received the William Allan Memorial Award from the American Society of Human Genetics.[10] In 1993, she was elected a Fellow of the Royal Society.[11] She was the first recipient of the KS&A Patricia Jacobs Lifetime Achievement Award from the US charity Knowledge Support & Action.[12] In February 2010, Jacobs was elected as a member of the United States National Academy of Sciences, the induction ceremony took place in April.[13] In 2011, Jacobs received the March of Dimes Prize in Developmental Biology.[14]

Personal life

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

Notes and References

  1. LEJEUNE J, GAUTHIER M, TURPIN R . Human chromosomes in tissue cultures . . 248 . 4 . 602–3 . 26 January 1959 . 13629913.
  2. Web site: The Office of Women in Science and Medicine. www.hopkinsmedicine.org. 15 January 2024.
  3. JACOBS PA, STRONG JA . A case of human intersexuality having a possible XXY sex-determining mechanism . . 183 . 4657 . 302–3 . 31 January 1959 . 13632697 . 10.1038/183302a0 . 1959Natur.183..302J. 38349997 .
  4. https://ghr.nlm.nih.gov/condition/47xyy-syndrome 47,XYY syndrome
  5. Sandberg, Avery A. . Koepf, George F. . Ishihara, Takaaki . Hauschka, Theodore S. . 26 August 1961 . An XYY human male . . 278 . 7200 . 488–489 . 13746118 . 10.1016/S0140-6736(61)92459-X.
    • Hauschka, Theodore S. . Hasson, John E. . Goldstein, Milton N. . Koepf, George F. . Sandberg, Avery A. . March 1962 . An XYY man with progeny indicating familial tendency to non-disjunction . . 14 . 22–30 . 13905424 . 1932182 . 1.
  6. 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 . . 208 . 5017 . 1351–2 . 10.1038/2081351a0 . 5870205 . 1965Natur.208.1351J . 4145850 .
    • Price, William H. . Strong, John A. . Whatmore, Peter B. . McClemont, William F. . 12 March 1966 . Criminal patients with XYY sex-chromosome complement . . 287 . 7437 . 565–6 . 10.1016/S0140-6736(66)90760-4 . 4159988.
    • editorial . 12 March 1966 . The YY syndrome . . 287 . 7437 . 583–4 . 10.1016/S0140-6736(66)90771-9 . 4159658.
    • Price, William H. . Whatmore, Peter B. . 25 February 1967 . Criminal behavior and the XYY male . . 213 . 5078 . 815 . 10.1038/213815a0 . 6031815 . 1967Natur.213..815P . 4158233 . free .
    • Price, William H. . Whatmore, Peter B. . 4 March 1967 . Behaviour disorders and pattern of crime among XYY males identified at a maximum security hospital . BMJ. 1 . 5539 . 533–6 . 6017153 . 1841401 . 10.1136/bmj.1.5539.533.
    • Court Brown, W. Michael . Price, William H. . Jacobs, Patricia A. . 11 May 1968 . Further information on the identity of 47,XYY males . British Medical Journal. 2 . 5601 . 325–8 . 5689727 . 1985597 . 10.1136/bmj.2.354.325-a.
    • Jacobs, Patricia A. . Price, William H. . Court Brown, W. Michael . Brittain, Robert P. . Whatmore, Peter B. . May 1968 . Chromosome studies on men in a maximum security hospital . . 31 . 4 . 339–58 . 10.1111/j.1469-1809.1968.tb00566.x . 83969793 .
    • Court Brown, W. Michael . Price, William H. . Jacobs, Patricia A. . 23 November 1968 . The XYY male . BMJ. 4 . 5629 . 513 . 10.1136/bmj.4.5629.513-a . 62593088 .
    • Jacobs, Patricia A. . September 1982 . The William Allan Memorial Award address: human population cytogenetics: the first twenty-five years . American Journal of Human Genetics. 34 . 5 . 689–98 . 6751075 . 1685430.
    • Book: Harper, Peter S. . 2006 . The sex chromosomes . First years of human chromosomes : the beginnings of human cytogenetics . Bloxham . Scion . 978-1-904842-24-8 . 77–96.
  7. Book: Green, Jeremy . 1985 . Media sensationalism and science: The case of the criminal chromosome . 139–161 . Shinn, Terry . Whitley, Richard . Expository science: Forms and functions of popularisation . 978-90-277-1831-0 . D. Reidel Pub. Co. . Dordrecht, Holland . https://archive.org/details/expositoryscienc0000unse/page/139 .
  8. Book: Beckwith, Jonathan R. . 2002 . The myth of the criminal chromosome . Making genes, making waves: A social activist in science . https://archive.org/details/makinggenesmakin0000beck . registration . Cambridge, Massachusetts . . 978-0-674-00928-8 . 116–134.
  9. Book: Milunsky, Jeff M. . 2010 . Prenatal diagnosis of sex chromosome abnormalities . 273–312 . Milunsky, Aubrey . Milunsky, Jeff M. . Genetic disorders and the fetus: diagnosis, prevention and treatment . 6th . Oxford . . 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..
  10. 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. 0002-9297. 1685433. 6751074.
  11. http://royalsociety.org/page.asp?id=2214 The Royal Society website
  12. Web site: Knowledge Support & Action – Patricia Jacobs Lifetime Achievement Award. https://web.archive.org/web/20080608102917/http://www.genetic.org/knowledge/support/action/C143/. dead. 8 June 2008.
  13. Web site: Top honour for scientist. Salisbury Journal. 16 February 2010 . 13 June 2017.
  14. Web site: Salisbury District Hospital Geneticist Wins International Honour. salisbury.nhs.uk. 13 June 2017. 14 October 2017. https://web.archive.org/web/20171014134322/http://www.salisbury.nhs.uk/AboutUs/media/Pages/SalisburyDistrictHospitalGeneticistWinsInternationalHonour.aspx. dead.

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