Patricia Ann Jacobs
|Born||8 October 1934|
|Education||University of St Andrews|
|Known for||Klinefelter syndrome|
|Awards||Mauro Baschirotto Award (1999)|
March of Dimes Prize in Developmental Biology (2011)
William Allan Memorial Award
KS&A Patricia Jacobs Lifetime Achievement Award
|Thesis||Cytogenetic studies (1966)|
Patricia Ann Jacobs OBE FRSE FRS FMedSci FRCPath (born 8 October 1934) is an award winning 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
Career and research
In 1959, five days after Lejeune described the trisomy-21 in Down syndrome, Jacobs and John Strong described an additional X chromosome in male patients (the 47,XXY karyotype) 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: After it had been incidentally discovered by Avery Sandberg in 1961, 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. However, that selection had been too little for a meaningful result, so that individuals of this syndrome were mischaracterised as aggressive and violent criminals, which led the path for many biased studies on height-selected, institutionalised XYY individuals in the following decades.
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. In 1993, she was elected a Fellow of the Royal Society. She was the first recipient of the KS&A Patricia Jacobs Lifetime Achievement Award from the US charity Knowledge Support & Action. In February 2010, Jacobs was elected as a member of the United States National Academy of Sciences, the induction ceremony took place in April. In 2011, Jacobs received the March of Dimes Prize in Developmental Biology.
- "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, retrieved 5 August 2018
- 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.
- Adam's Curse: A Future Without Men<
- 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.
- 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.
- 47,XYY syndrome on Genetics Home Reference, Other Names. Retrieved 6 August 2017
- 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.
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.
- Price, William H.; Strong, John A.; Whatmore, Peter B.; McClemont, William F. (12 March 1966). "Criminal patients with XYY sex-chromosome complement". The Lancet. 287 (7437): 565–6. doi:10.1016/S0140-6736(66)90760-4. PMID 4159988.
- editorial (12 March 1966). "The YY syndrome". The Lancet. 287 (7437): 583–4. doi:10.1016/S0140-6736(66)90771-9. PMID 4159658.
- Price, William H.; Whatmore, Peter B. (25 February 1967). "Criminal behavior and the XYY male". Nature. 213 (5078): 815. Bibcode:1967Natur.213..815P. doi:10.1038/213815a0. PMID 6031815.
- 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. doi:10.1136/bmj.1.5539.533. PMC 1841401. PMID 6017153.
- 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. doi:10.1136/bmj.2.354.325-a. PMC 1985597. PMID 5689727.
- 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". Annals of Human Genetics. 31 (4): 339–58. doi:10.1111/j.1469-1809.1968.tb00566.x.[permanent dead link]
- Court Brown, W. Michael; Price, William H.; Jacobs, Patricia A. (23 November 1968). "The XYY male". BMJ. 4 (5629): 513. doi:10.1136/bmj.4.5629.513-a.
- 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. PMC 1685430. PMID 6751075.
- Harper, Peter S. (2006). "The sex chromosomes". First years of human chromosomes : the beginnings of human cytogenetics. Bloxham: Scion. pp. 77–96. ISBN 978-1-904842-24-8.
- 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.
- 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.
- 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.
- The Royal Society website. Retrieved 21 July 2008 Archived 9 June 2008 at the Wayback Machine
- Knowledge Support & Action – Patricia Jacobs Lifetime Achievement Award Archived 8 June 2008 at the Wayback Machine
- "Top honour for scientist". Salisbury Journal. Retrieved 13 June 2017.
- "Salisbury District Hospital Geneticist Wins International Honour". salisbury.nhs.uk. Retrieved 13 June 2017.