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.[1][2]
Career and research
In 1959, five days after Jérôme Lejeune described the trisomy-21[3] in Down syndrome, basing himself off Marthe Gautier's work,[4] Jacobs and John Strong described an additional X chromosome in male patients (the 47,XXY karyotype)[5] 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:[6] After it had been incidentally discovered by Avery Sandberg in 1961,[7] 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.[8] 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.[9][10][11]
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.[1] Jacobs was elected as a Foreign Associate of the US National Academy of Sciences in 2010.[2]
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. PMID4159988.
Harper, Peter S. (2006). "The sex chromosomes". First years of human chromosomes : the beginnings of human cytogenetics. Bloxham: Scion. pp. 77–96. ISBN978-1-904842-24-8.
^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. ISBN978-1-4051-9087-9. 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.
