History of Fragile X Syndrome Sample Clauses

History of Fragile X Syndrome. In 1943, J. Xxxxxx Xxxxxx and Xxxxx Xxxx published their seminal report on a family with eleven intellectually disabled males. While no females in the pedigree demonstrated “imbecility” (the antiquated term for severe intellectual disability), approximately 50% of the male offspring of unaffected females were affected (Figure 1.1A). Thus, the authors presented this pedigree as the first evidence of X-linked intellectual disability. Two features of the pedigree that puzzled the authors, however, were the lack of ID in the males of ancestral generations and the fact that two females exhibited some measure of mental deficiency, as both of these phenomena conflict with the hypothesis of recessive sex-linked Mendelian inheritance. With the exception of their ID, the affected males did not share any gross impairments or common physical features to distinguish their disorder from that of others affected with ID (Xxxxxx 1943).
Sample 1
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History of Fragile X Syndrome. A. The original pedigree by Xxxxxx and Xxxx of the first family described in the literature with what we now know as fragile X syndrome. The transmission pattern is largely consistent with X-linked recessive inheritance of the intellectual disability, with approximately 50% of the unaffected females transmitting the ID to 50% of their male offspring. (Reprinted with permission from Xxxxxx, X.X., Xxxx, J. 1943. A pedigree of mental defect showing sex-linkage. J Neurol Psychiatry 6: 154-157.)
Sample 1

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