Fragile X-Linked Mental Retardation

Metacarpophalangeal pattern profile analysis in fragile X syndrome

“…Although the metacarpals were consistently short, the shortest bone relative to normal values was the fifth metacarpal (average Z score equals −1.5). Our data indicating short metaearpals, particularly the 4th and 5th metacarpals, are in agreement with that reported by Carpenter et al [1982]. The hand pattern profile was fairly flat with little up and down deviation (excluding metacarpal area) as indicated by a low pattern variability index of 0.16.…”

Cytogenetic Diagnosis of Fragile X Syndrome: Study of 305 Suspected Cases in Saudi Arabia

“…Carpenter et al 38 studied 36 patients with a family history of MR and found 13.9% to be fragile X-positive cases, whereas FrosterIskenius et al 39 studied more than 200 patients with a family history of MR and found only 3.6% to be fragile Xpositive. The authors in the present study found 81 patients with a family history of MR; among these, 12 patients (14.8%) were found to be fragile X-positive, which is similar to the report by Carpenter et al 38 Seizures have been observed in 20% of fragile X males and 5% of females. 2,[40][41] Interestingly, in our study population, approximately 4% of fragile X patients were affected with seizures.…”

The female and the Fragile X. A study of 144 obligate female carriers

“…During the past 7 years the fra(X) syndrome has been the subject of widespread medical interest (Sutherland 1979;Sutherland and Ashforth, 1979;Herbst, 1980, Herbst andMiller, 1980;Jacobs et al, 1980;Turner and Opitz, 1980;Herbst et al, 1981;Mattei et al, 1981;Blomquist et al, 1982;Carpenter et al, 1982;Venter and Op't Hof, 1982;Carpenter, 1983;Fishburn et al, 1983;Fryns and Van den Berghe, 1983;Glover, 1983;Howard-Peebles, 1983;Jacobs et al, 1983;Kzhkgnen et al, 1983;Brdndum-Nielsen et al, 1983;Opitz and Sutherland, 1984;Sherman et al, 1984;Fryns, 1984) The clinical and cytogenetic findings in the fra(X male have been progressively elucidated and delineated, first in adults and later in prepubertal boy. The study of an in reasing number of families by different genetic centers has also uncovered problems encountered in female carriers.…”