Serendipity or prepared mind? Recollections of the KOP translocation (1967) and of one form of Perrault syndrome.

doi:10.1002/ajmg.c.31420

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Serendipity or prepared mind? Recollections of the KOP translocation (1967) and of one form of Perrault syndrome.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Dec 2014

Opitz John M

Abstract excerpt

The human X/autosome translocation, designated KOP, was discovered by Dr. Philip D. Pallister in Montana in 1967 in a young man with apparent Klinefelter syndrome. Collaboratively it was possible to elucidate the genetic nature of his unprecedented chromosome rearrangement and its developmental effects in mother and son. In retrospect, these clinical and genetic studies at the height of the somatic cell genetics...

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Serendipity or prepared mind? Recollections of the KOP translocation (1967) and of one form of Perrault syndrome.

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