Patricia Jacobs

{{Infobox scientist

| honorific_prefix =

| name = Patricia Jacobs

| honorific_suffix = {{postnominals|country=GBR|size=100%|OBE|FRS|FRSE|FMedSci|FRCPath|FRCPE|FRCOG|FRSA}}

| native_name =

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| birth_name = Patricia Ann Jacobs

| birth_date = {{birth date and age|1934|10|08|df=y}}

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| citizenship =

| nationality = British

| fields =

| workplaces = {{plainlist|

University of Southampton

}}

| education = University of St Andrews

| thesis_title = Cytogenetic studies (1966)

| known_for = Klinefelter syndrome
XXY syndrome
Trisomy X
Philadelphia Chromosome

| awards = Mauro Baschirotto Award (1999){{cite web |title=ESHG Award Laureates |url=https://www.eshg.org/about-the-eshg/awards/eshg-award-laureates |website=The European Society of Human Genetics |access-date=28 March 2025}}
March of Dimes Prize in Developmental Biology (2011)
William Allan Award (1981)

| spouse = Newton Morton

| children =

| website = {{URL|southampton.ac.uk/medicine/about/staff/pj2f09.page}}

}}

Patricia Ann Jacobs (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.{{Citation|chapter=Jacobs, Prof. Patricia Ann, (born 8 Oct. 1934), Co-Director of Research, Wessex Regional Genetics Laboratory, 2001–15 (Director, 1988–2001)|date=2007-12-01|chapter-url=http://www.ukwhoswho.com/view/10.1093/ww/9780199540884.001.0001/ww-9780199540884-e-21706|publisher=Oxford University Press|language=en|doi=10.1093/ww/9780199540884.013.u21706|access-date=2018-08-05|title=Who's Who|isbn=978-0-19-954088-4}}

Career and research

In 1959, five days after Jérôme Lejeune described the trisomy-21{{cite journal |vauthors=LEJEUNE J, GAUTHIER M, TURPIN R |title=Human chromosomes in tissue cultures |journal= Comptes Rendus Hebdomadaires des Séances de l'Académie des Sciences |volume=248 |issue=4 |pages=602–3 |date=26 January 1959 |pmid=13629913}} in Down syndrome, basing himself off Marthe Gautier's work,{{Cite web|url=https://www.hopkinsmedicine.org/office-women-science-medicine|title=The Office of Women in Science and Medicine|website=www.hopkinsmedicine.org|accessdate=15 January 2024}} Jacobs and John Strong described an additional X chromosome in male patients (the 47,XXY karyotype){{cite journal |vauthors=JACOBS PA, STRONG JA |title=A case of human intersexuality having a possible XXY sex-determining mechanism |journal=Nature |volume=183 |issue=4657 |pages=302–3 |date=31 January 1959 |pmid=13632697 |doi=10.1038/183302a0 |bibcode=1959Natur.183..302J|s2cid=38349997 }} 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:[https://ghr.nlm.nih.gov/condition/47xyy-syndrome 47,XYY syndrome] on Genetics Home Reference, Other Names. Retrieved 6 August 2017 After it had been incidentally discovered by Avery Sandberg in 1961,{{cite journal |author1=Sandberg, Avery A. |author2=Koepf, George F. |author3=Ishihara, Takaaki |author4=Hauschka, Theodore S. |date=26 August 1961 |title=An XYY human male |journal=The Lancet |volume=278 |issue=7200 |pages=488–489 |pmid=13746118 |doi=10.1016/S0140-6736(61)92459-X}}

{{cite journal |author1=Hauschka, Theodore S. |author2=Hasson, John E. |author3=Goldstein, Milton N. |author4=Koepf, George F. |author5=Sandberg, Avery A. |date=March 1962 |title=An XYY man with progeny indicating familial tendency to non-disjunction |journal=American Journal of Human Genetics |volume=14 |pages=22–30 |pmid=13905424 |pmc=1932182 |issue=1}} 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.

{{cite journal |author1=Jacobs, Patricia A. |author2=Brunton, Muriel |author3=Melville, Marie M. |author4=Brittain, Robert P. |author5=McClemont, William F. |date=25 December 1965 |title=Aggressive behavior, mental sub-normality and the XYY male |journal=Nature |volume=208 |issue=5017 |pages=1351–2 |doi=10.1038/2081351a0 |pmid=5870205 |bibcode=1965Natur.208.1351J |s2cid=4145850 }}

{{cite journal |author1=Price, William H. |author2=Strong, John A. |author3=Whatmore, Peter B. |author4=McClemont, William F. |date=12 March 1966 |title=Criminal patients with XYY sex-chromosome complement |journal=The Lancet |volume=287 |issue=7437 |pages=565–6 |doi=10.1016/S0140-6736(66)90760-4 |pmid=4159988}}
{{cite journal |author=editorial |date=12 March 1966 |title=The YY syndrome |journal=The Lancet |volume=287 |issue=7437 |pages=583–4 |doi=10.1016/S0140-6736(66)90771-9 |pmid=4159658}}
{{cite journal |author1=Price, William H. |author2=Whatmore, Peter B. |date=25 February 1967 |title=Criminal behavior and the XYY male |journal=Nature |volume=213 |issue=5078 |page=815 |doi=10.1038/213815a0 |pmid=6031815 |bibcode=1967Natur.213..815P |s2cid=4158233 |doi-access=free }}
{{cite journal |author1=Price, William H. |author2=Whatmore, Peter B. |date=4 March 1967 |title=Behaviour disorders and pattern of crime among XYY males identified at a maximum security hospital |journal= BMJ|volume=1 |issue=5539 |pages=533–6 |pmid=6017153 |pmc=1841401 |doi=10.1136/bmj.1.5539.533}}
{{cite journal |author1=Court Brown, W. Michael |author2=Price, William H. |author3=Jacobs, Patricia A. |date=11 May 1968 |title=Further information on the identity of 47,XYY males |journal= British Medical Journal|volume=2 |issue=5601 |pages=325–8 |pmid=5689727 |pmc=1985597 |doi=10.1136/bmj.2.354.325-a}}
{{cite journal |author1=Jacobs, Patricia A. |author2=Price, William H. |author3=Court Brown, W. Michael |author4=Brittain, Robert P. |author5=Whatmore, Peter B. |date=May 1968 |title=Chromosome studies on men in a maximum security hospital |journal=Annals of Human Genetics |volume=31 |issue=4 |pages=339–58 |url=http://www3.interscience.wiley.com/cgi-bin/fulltext/119911478/PDFSTART |doi=10.1111/j.1469-1809.1968.tb00566.x |s2cid=83969793 }}{{Dead link|date=May 2019 |bot=InternetArchiveBot |fix-attempted=yes }}
{{cite journal |author1=Court Brown, W. Michael |author2=Price, William H. |author3=Jacobs, Patricia A. |date=23 November 1968 |title=The XYY male |journal= BMJ|volume=4 |issue=5629 |page=513 |url=http://www.bmj.com/cgi/pdf_extract/4/5629/513-a |doi=10.1136/bmj.4.5629.513-a |s2cid=62593088 }}
{{cite journal |author=Jacobs, Patricia A. |date=September 1982 |title=The William Allan Memorial Award address: human population cytogenetics: the first twenty-five years |journal=American Journal of Human Genetics|volume=34 |issue=5 |pages=689–98 |pmid=6751075 |pmc=1685430}}
{{cite book |author=Harper, Peter S. |year=2006 |chapter=The sex chromosomes |title=First years of human chromosomes : the beginnings of human cytogenetics |location=Bloxham |publisher=Scion |isbn=978-1-904842-24-8 |pages=77–96}}

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.{{cite book |author=Green, Jeremy |year=1985 |chapter=Media sensationalism and science: The case of the criminal chromosome |pages=[https://archive.org/details/expositoryscienc0000unse/page/139 139–161] |editor1=Shinn, Terry |editor2=Whitley, Richard |title=Expository science: Forms and functions of popularisation |isbn=978-90-277-1831-0 |publisher=D. Reidel Pub. Co. |location=Dordrecht, Holland |chapter-url=https://archive.org/details/expositoryscienc0000unse/page/139 }}{{cite book |author=Beckwith, Jonathan R. |year=2002 |chapter=The myth of the criminal chromosome |title=Making genes, making waves: A social activist in science |chapter-url=https://archive.org/details/makinggenesmakin0000beck |chapter-url-access=registration |location=Cambridge, Massachusetts |publisher=Harvard University Press |isbn=978-0-674-00928-8 |pages=[https://archive.org/details/makinggenesmakin0000beck/page/116 116–134]}}{{cite book |author=Milunsky, Jeff M. |year=2010 |chapter=Prenatal diagnosis of sex chromosome abnormalities |pages=273–312 |editor1=Milunsky, Aubrey |editor2=Milunsky, Jeff M. |title=Genetic disorders and the fetus: diagnosis, prevention and treatment |edition=6th |location=Oxford |publisher=Wiley-Blackwell |isbn=978-1-4051-9087-9|quote=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.}}

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{{cite news |title=European award in Human Genetics 1999 - VIII Edition - Prof Patricia Jacobs |url=https://www.birdfoundation.org/european-award-in-human-genetics-1999/ |access-date=28 March 2025 |agency=B.I.R.D. Foundation}} and the 2011 March of Dimes Prize in Developmental Biology.{{cite news |last1=Carl |first1=Sarah |title=March of Dimes Prize Announced |url=https://thenode.biologists.com/march-of-dimes-prize-announced/news/ |access-date=28 March 2025 |work=The Node |publisher=The Company of Biologists |date=5 May 2011}}{{cite news |title=Professor Patricia Jacobs Receives International Award |url=https://archive.jnetics.org/cptevents/professor-patricia-jacobs-receives-international-award/ |access-date=28 March 2025 |publisher=Jnetics |date=11 May 2011}} 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 Award from the American Society of Human Genetics.{{Cite journal|last=Hamerton|first=J L|date=September 1982|title=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|journal=American Journal of Human Genetics|volume=34|issue=5|pages=683–688|issn=0002-9297|pmc=1685433|pmid=6751074}} In 1993, she was elected a Fellow of the Royal Society.[http://royalsociety.org/page.asp?id=2214 The Royal Society website]. Retrieved 21 July 2008 {{Webarchive|url=https://web.archive.org/web/20080609050409/http://royalsociety.org/page.asp?id=2214 |date=9 June 2008 }} She was the first recipient of the KS&A Patricia Jacobs Lifetime Achievement Award from the US charity Knowledge Support & Action.{{Cite web|url=http://www.genetic.org/knowledge/support/action/C143/|archive-url=https://web.archive.org/web/20080608102917/http://www.genetic.org/knowledge/support/action/C143/|url-status=dead|title=Knowledge Support & Action – Patricia Jacobs Lifetime Achievement Award|archive-date=8 June 2008}} In February 2010, Jacobs was elected as a member of the United States National Academy of Sciences, the induction ceremony took place in April.{{Cite web|url=http://www.salisburyjournal.co.uk/news/salisbury/salisburynews/5009854.Top_honour_for_scientist/|title=Top honour for scientist|website=Salisbury Journal|date=16 February 2010 |access-date=13 June 2017}} In 2011, Jacobs received the March of Dimes Prize in Developmental Biology.{{Cite web|url=http://www.salisbury.nhs.uk/AboutUs/media/Pages/SalisburyDistrictHospitalGeneticistWinsInternationalHonour.aspx|title=Salisbury District Hospital Geneticist Wins International Honour|website=salisbury.nhs.uk|access-date=13 June 2017|archive-date=14 October 2017|archive-url=https://web.archive.org/web/20171014134322/http://www.salisbury.nhs.uk/AboutUs/media/Pages/SalisburyDistrictHospitalGeneticistWinsInternationalHonour.aspx|url-status=dead}}