Patricia Jacobs

Career and research

In 1959, she and John Strong were the first to describe a chromosomal abnormality in humans, the additional X chromosome (the 47,XXY karyotype) also known as Klinefelter syndrome, as Harry Klinefelter had already diagnosed the symptomes in 1942. Despite this milestone not the XXY syndrome but 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 mischaracterized as aggressive and violent criminals, which led the path for many biased studies on height-selected, institutionalized 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. In addition to being a Fellow of the Royal Society, 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 (FRS). She was the first recipient of the KS&A Patricia Jacobs Lifetime Achievement Award from the U.S. 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.