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Fragile X chromosome related to mental retardation in males

JAMA. 1979;242(17):1829-1830. doi:10.1001/jama.1979.03300170003001.
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ABSTRACT

"I finally came to believe it was simply an unusual family," says pediatrician-geneticist Herbert A. Lubs, MD, "since a number of other investigators tried to find the defect and couldn't and even I failed to find it in other families."

Indeed, for a seemingly almost trivial reason, Lubs had to wait eight years for confirmation of his 1969 finding of a "fragile X chromosome" or "marker X chromosome" in four mentally retarded men who spanned three generations of the same family (Am J Hum Genet 21:231-244, 1969).

It was not until 1977 that the next report of familial mental retardation apparently due to the X chromosome abnormality, by J. Harvey, C. Judge, and S. Wiener of St Nicholas Hospital, Carlton, Australia, appeared (J Med Genet 14:46, 1950).

But now the story is out: The reason for the perhaps 35% excess of males over females in institutions and classes for the mentally retarded

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