Article
The fragile X in Sicily: an epidemiological survey.
American journal of medical genetics - 1 Jan 2000
Neri G, Sanfilippo S, Pavone L, Mollica F, Barberi I, Giuffrè L, Romano C, Mattina T, Cammarata M, Ragusa M G
Abstract excerpt
We have studied a group of 349 institutionalized propositi with mental retardation, and found 12 fra(X)-positive cases among 155 males (7.7%) and 8 fra(X)-positive cases among 194 females (4.1%). The males had characteristic manifestations of the Martin-Bell syndrome. Another 7 males, who were initially considered "borderline", having expression of fra(X) less than 4% and a non-characteristic phenotype, were...
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