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Molecular and cytogenetic analysis of the fragile X syndrome in a series of 453 mentally retarded subjects: A study of 87 families

✍ Scribed by Perroni, L.; Grasso, M.; Argusti, A.; Nigro, C. Lo; Croci, G. F.; Zelante, L.; Garani, G. P.; Bricarelli, F. Dagna

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
25 KB
Volume
64
Category
Article
ISSN
0148-7299

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✦ Synopsis

We report on a series of 453 mentally retarded subjects investigated for fragile X syndrome from 1982 to July 1995. The 22% rate of efficiency of FRAX positivity indicated a significant preselection by the c h icians. However, this rate dropped to ll% in the last year. Since 1992, Southern blot analysis was extended to include family members of the 87 positive subjects, for a total of 442 individuals examined with the probe StB12.3. In addition to premutated (1181, fully mutated (1481, and prelfull mutation mosaic subjects (27), 14 atypical cases were found. Some of these cases are described in more detail. In particular, we report on the hybridization and polymerase chain reaction data of 2 fragile X subjects with full mutation and a 2.8-kb allele and 1 with full mutation and a 2.4-kb allele. An intellectually normal male with 18% of fraXq27.3 and an unmethylated full mutation is also described. Finally, a mentally retarded child with only a lower allele of 2.7 kb is presented.

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