Patricia Ann Jacobs OBE

FRSE Fellowship of the Royal Society of Edinburgh (FRSE) is an award granted to individuals that the Royal Society of Edinburgh, Scotland's national academy of science and letters, judged to be "eminently distinguished in their subject". This soci ...

FRS FMedSci FRCPath (born 8 October 1934) is a Scottish

geneticist A geneticist is a biologist or physician who studies genetics, the science of genes, heredity, and variation of organisms. A geneticist can be employed as a scientist or a lecturer. Geneticists may perform general research on genetic processes ...

and is Honorary Professor of Human Genetics, Co-director of Research, Wessex Regional Genetics Laboratory, within the

University of Southampton , mottoeng = The Heights Yield to Endeavour , type = Public research university , established = 1862 – Hartley Institution1902 – Hartley University College1913 – Southampton University Coll ...

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 (Aien aristeuein) , motto_lang = grc , mottoeng = Ever to ExcelorEver to be the Best , established = , type = Public research university Ancient university , endowment ...

, graduating in 1956 with a BSc with first class honours in zoology. She was cited by professor

Bryan Sykes Bryan Clifford Sykes (9 September 1947 – 10 December 2020) was a British geneticist and science writer who was a Fellow of Wolfson College and Emeritus Professor of human genetics at the University of Oxford.Jérôme Lejeune Jérôme Jean Louis Marie Lejeune (13 June 1926 – 3 April 1994) was a French pediatrician and geneticist, best known for discovering the link of diseases to chromosome abnormalities, most especially the link between Down Syndrome and trisomy-21 ...

described the

trisomy-21 Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with physical growth delays, mild to moderate intellectual dis ...

in Down syndrome, basing himself off

Marthe Gautier Marthe Gautier (; 10 September 1925 – 30 April 2022) was a French medical doctor and researcher, best known for her role in discovering the link of diseases to chromosome abnormalities. Education Marthe Gautier discovered a vocation for ped ...

's work, Jacobs and John Strong described an additional X chromosome in male patients (the 47,XXY karyotype) also known as

Klinefelter syndrome Klinefelter syndrome (KS), also known as 47,XXY, is an aneuploid genetic condition where a male has an additional copy of the X chromosome. The primary features are infertility and small, poorly functioning testicles. Usually, symptoms are sub ...

, as

Harry Klinefelter Harry Fitch Klinefelter Jr. (; March 20, 1912 – February 20, 1990) was an American rheumatologist and endocrinologist. Klinefelter syndrome is named after him. Biography Klinefelter studied first at the University of Virginia, Charlottesville ...

had already diagnosed the symptoms in 1942. Despite her work being on XXY syndrome, the

XYY syndrome XYY syndrome, also known as Jacobs syndrome, is an aneuploid genetic condition in which a male has an extra Y chromosome. There are usually few symptoms. These may include being taller than average, acne, and an increased risk of learning di ...

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 Developmental disability is a diverse group of chronic conditions, comprising mental or physical impairments that arise before adulthood. Developmental disabilities cause individuals living with them many difficulties in certain areas of life, espe ...

, 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 The National Academy of Sciences (NAS) is a United States nonprofit, non-governmental organization. NAS is part of the National Academies of Sciences, Engineering, and Medicine, along with the National Academy of Engineering (NAE) and the Natio ...

in 2010. In 1981, she received the William Allan Memorial Award from the

American Society of Human Genetics The American Society of Human Genetics (ASHG), founded in 1948, is a professional membership organization for specialists in human genetics. As of 2009, the organization had approximately 8,000 members. The Society's members include researchers, a ...

. In 1993, she was elected a

Fellow of the Royal Society Fellowship of the Royal Society (FRS, ForMemRS and HonFRS) is an award granted by the judges of the Royal Society of London to individuals who have made a "substantial contribution to the improvement of natural knowledge, including mathemati ...

. 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 National Academy of Sciences (NAS) is a United States nonprofit, non-governmental organization. NAS is part of the National Academies of Sciences, Engineering, and Medicine, along with the National Academy of Engineering (NAE) and the N ...

, the induction ceremony took place in April. In 2011, Jacobs received the

March of Dimes March of Dimes is a United States nonprofit organization that works to improve the health of mothers and babies. The organization was founded by President Franklin D. Roosevelt in 1938, as the National Foundation for Infantile Paralysis, to comb ...

Prize in Developmental Biology.

Personal life

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

References

External links

* {{DEFAULTSORT:Jacobs, Patricia 1934 births Living people Scottish geneticists Female Fellows of the Royal Society Fellows of the Royal Society Fellows of the American Statistical Association Place of birth missing (living people) Foreign associates of the National Academy of Sciences Officers of the Order of the British Empire Alumni of the University of St Andrews Academics of the University of Southampton Fellows of the Royal Society of Edinburgh Human geneticists Fellows of the Royal College of Physicians of Edinburgh Academics of the University of Edinburgh Scottish women scientists Wellcome Trust Principal Research Fellows Scottish women academics