Is jacob's syndrome relates to some guy named jacob like Henry Turner to turner's syndrome?

Question

I can't find anything relating to jacob on jacob's syndrome. If you know, tell me his full name and a brief biography and how he is related to this syndrome. Thanks.

Answer 1

What a good question!

Usually these things are named after the doctor who first identifies them.  Jacobs' syndrome is usually not referred to by name any more, though--mostly it's just called XYY syndrome.  So I had to do some hunting around, and the doctor who first identified it was named Avery Sandberg.  So I was wondering if maybe Jacob was the man the condition was first incidentally identified in.

But no!  A mere three years after the confirmation of the normal complement of 23 pairs of chromosomes in humans, a British genetics researcher named Patricia Jacobs identified the first definite human s*x-chromosome aneuploidy (it was what is now called Kleinfelter syndrome, in which the patient has XXY karyotype).  She identified Trisomy X shortly after that, and Dr. Sandberg's identification of XYY must have followed her work closely enough that the disorder was given her name.

Dr. Jacobs also was the first to identify the karyotype of Down syndrome (which is still named after the doctor who first identified the syndrome, even though he came long before the ability to check the chromosomes).

Thank you for asking this question!  Dr. Jacobs is still with us and is a Professor of Human Genetics at the University of Southampton, and I'm delighted to have learned something about this impressive lady.