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.
Patricia Ann Jacobs | |
---|---|
Born | 8 October 1934 |
Nationality | British |
Education | University of St Andrews |
Known for | Klinefelter syndrome XYY syndrome Trisomy X Philadelphia Chromosome |
Spouse | Newton Morton |
Awards | Mauro 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) |
Website | southampton |
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]
She was cited by professor Bryan Sykes in Adam's Curse: A Future Without Men.[3]
In 1959, five days after Jérôme Lejeune described the trisomy-21[4] in Down syndrome, basing himself off Marthe Gautier's work,[5] Jacobs and John Strong described an additional X chromosome in male patients (the 47,XXY karyotype)[6] 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:[7] After it had been incidentally discovered by Avery Sandberg in 1961,[8] 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.[9] 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.[10][11][12]
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][13] She was the first recipient of the KS&A Patricia Jacobs Lifetime Achievement Award from the US charity Knowledge Support & Action.[14] In February 2010, Jacobs was elected as a member of the United States National Academy of Sciences, the induction ceremony took place in April.[15] In 2011, Jacobs received the March of Dimes Prize in Developmental Biology.[16]
In 1972 she married Newton Morton. She has two step-daughters and three step-sons.[1]
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.