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The Victor A. McKusick Papers

Letter from Victor A. McKusick to Harold Jeghers pdf (138,902 Bytes) transcript of pdf
Letter from Victor A. McKusick to Harold Jeghers
Item is handwritten.
Number of Image Pages:
2 (138,902 Bytes)
1948-10-27 (October 27, 1948)
McKusick, Victor A.
Jeghers, Harold
[Georgetown University. School of Medicine]
Original Repository: Alan Mason Chesney Medical Archives. Victor Almon McKusick Collection
Reproduced with permission of Anne B. McKusick.
Medical Subject Headings (MeSH):
Peutz-Jeghers Syndrome
Exhibit Category:
From "Musical Murmurs" to Medical Genetics, 1945-1960
Unique Identifier:
Document Type:
Letters (correspondence)
Physical Condition:
U.S. Marine Hosp. Balto.
Dear Dr. Jeghers,
There is an article "The Clinical Detection of the Genetic Carriers of Inherited Disease" by James V. Neal, Medicine, 26: 115-153, 1947, which brings to mind another method of inheritance of the syndrome than "gene-linkage", or the presence of a separate gene for each characteristic on the same chromosome. Neal speaks of pleiotropic genes, or a single gene being responsible for many manifestations. As an example he sites[sic] the case of Marfan's disease, or arachnodactyly, in which a single dominant pleiotropic gene is responsible for the subluxation of the lens, the characteristic elongated body build, congenital heart disease, etc. There is, however, in the same family great variability in the completeness or degree of expression of the individual characteristics due to factors not at all understood. This analogy might serve to make less puzzling the possibility that some individuals have only the polyposis of the small intestine and other individuals only the characteristic pigmentation -- although, of course, it doesn't explain it.
Genetically the Syndrome is analogous to amaurotic[?] family idiocy or hereditary optic atrophy in which the patient is not born with the characteristics but only develops them as he ages.
James Harold Saint, "Polypi of the Intestines", Brit. J. of Surgery 15: 99-119, 1927, gives a ratio of 4:1 as the approximate incidence of polyposis in the large intestine as compared with that in the small int.
I have found the following reports of familial adenomatosis of the small intestine. The reports are too skimpy to permit construction of any sort of genealogical chart.
(1) William G. Haggard and William O. Floyd, "Repeated Resections for Intussusception Due to Familial Tumors of the Small Intestine," Am. J. Surg. 28: 428-438, 1935.
The father had 4 operations, 3 for intussusception and 1 for malignant degeneration. A daughter had 2 operations for intussusception due to adenomatous polypi. A son had 3 operations for the same reason.
(2) Van Dijk, J.A. and Ovdendal, A.J.F., "Adenoom van den Dunnen Darm," Nederl. Tijdsch. V. Genecsk. Ams., 1925, LXIX, 966-973.
A brother and sister both had several operations within a relatively short time for intussusception due to many adenomata of the upper ileum.
Victor A. McKusick
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